| ATM |
c.3402+3A>G |
|
NM_000051.3(ATM):c.3402+3A>G |
187380 |
https://community.breastcancer.org/forum/112/topics/862062?page=1#post_5154931 |
The variant is mentioned once by a one forum user here |
2019-12-13 23:44:06 |
| BRCA1 |
c.1018C>T |
p.Arg340Ter |
NM_007299.4(BRCA1):c.1018C>T (p.Arg340Ter) |
17675 |
https://messageboard.facingourrisk.org/t/brca1-r1443x/1936 |
Also called p.R1443X:CGA>TGA and 4446C>T |
2019-12-13 23:44:06 |
| BRCA1 |
c.135-62T>C |
|
|
|
https://community.breastcancer.org/forum/47/topics/835197?page=4 |
This variant is mentioned once by one forum user here |
2019-12-13 23:44:06 |
| BRCA1 |
c.1687C>T |
p.Gln563Ter |
NM_007300.4(BRCA1):c.1687C>T (p.Gln563Ter) |
37426 |
https://messageboard.facingourrisk.org/t/brca1-mutation-c-1687c-t/1826 |
|
2019-12-13 23:44:06 |
| BRCA1 |
c.1874_1877dup |
p.Val627Serfs*4 |
NM_007294.3(BRCA1):c.1874_1877dupTAGT (p.Val627Serfs) |
54376 |
https://messageboard.facingourrisk.org/t/brca1-c-1874-1877dup-p-val627serfs-4/2064 |
Also known as 1996ins4 |
2019-12-13 23:44:06 |
| BRCA1 |
c.213-11T>G |
|
NM_007299.4(BRCA1):c.213-11T>G |
37449 |
https://community.breastcancer.org/forum/47/topics/867079 |
|
2019-12-13 23:44:06 |
| BRCA1 |
c.2338C>T |
p.Gln780Ter |
NM_007300.4(BRCA1):c.2338C>T (p.Gln780Ter) |
54540 |
https://messageboard.facingourrisk.org/t/sharing-my-mutations/1875 |
also called 2457C>T |
2019-12-13 23:44:06 |
| BRCA1 |
c.2869C>T |
p.Gln957Ter |
NM_007294.3(BRCA1):c.2869C>T (p.Gln957Ter) |
54703 |
https://messageboard.facingourrisk.org/t/brca1-c-2869c-t-p-q957/1568 |
|
2019-12-13 23:44:06 |
| BRCA1 |
c.3768_3769AG |
p.Glu1257fs |
NM_007294.3(BRCA1):c.3768_3769AG[1] (p.Glu1257fs) |
37546 |
https://messageboard.facingourrisk.org/t/3889delag-brca-1/614 |
Also known as 3889delAG and 3888delGA |
2019-12-13 23:44:06 |
| BRCA1 |
c.4357+1G>A |
|
NM_007294.3(BRCA1):c.4357+1G>A |
37584 |
https://messageboard.facingourrisk.org/t/c-4357-ig-a/2066 |
Also known as IVS13+1G>A |
2019-12-13 23:44:06 |
| BRCA1 |
c.5096G>A |
p.Arg1699Gln |
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) |
37636 |
https://messageboard.facingourrisk.org/t/r1699q-intermediate-risk/925 |
Additional Links: https://messageboard.facingourrisk.org/t/brca1-c-5096g-a-p-arg1699gln/6014 |
2019-12-13 23:44:06 |
| BRCA1 |
c.5277+1G>A |
|
NM_007299.4(BRCA1):c.1965+1G>A |
37654 |
https://messageboard.facingourrisk.org/t/brca1/1897 |
|
2019-12-13 23:44:06 |
| BRCA1 |
c.53T>A |
p.Met18Lys |
NM_007294.3(BRCA1):c.53T>A (p.Met18Lys) |
70226 |
https://messageboard.facingourrisk.org/t/brca1-c-53t-a/1387 |
FORCE "Share your Mutation" |
2019-12-13 23:44:06 |
| BRCA1 |
c.5406+4_5406+7delAGTA |
|
PMID: 30374176 |
531285 |
|
|
2019-12-13 23:44:06 |
| BRCA1 |
c.68_69delAG |
p.Glu23Valfs |
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) |
17662 |
https://messageboard.facingourrisk.org/t/brca1-c-68-69del-p-glu23valfs-17/1429 |
Additional links: https://messageboard.facingourrisk.org/t/brca1-c-68-69del/5811/11 |
2019-12-13 23:44:06 |
| BRCA1 |
c.798_799del |
p.Ser267fs |
NM_007294.3(BRCA1):c.798_799del (p.Ser267fs) |
37698 |
https://messageboard.facingourrisk.org/t/917deltt-brca1/61 |
also known as 917delTT and 916delTT |
2019-12-13 23:44:06 |
| BRCA1 |
del exon 1-7 |
|
|
|
https://messageboard.facingourrisk.org/t/brca1-del-exons-1-7/1745 |
|
2019-12-13 23:44:06 |
| BRCA1 |
del exon 21 |
|
|
|
https://messageboard.facingourrisk.org/t/brca1-del-exon-21/147 |
|
2019-12-13 23:44:06 |
| BRCA2 |
c.1189_1190insTTAG |
p.Gln397Leufs |
NM_000059.3(BRCA2):c.1189_1190insTTAG (p.Gln397Leufs) |
51080 |
https://messageboard.facingourrisk.org/t/brca2-mrna-c-1189-1190insttag/1321 |
FORCE "Share Your Mutation" forum |
2019-12-13 23:44:06 |
| BRCA2 |
c.316+5G>A |
|
NM_000059.3(BRCA2):c.316+5G>A |
51409 |
https://messageboard.facingourrisk.org/t/brca2-c-316-5g-a/1836 |
|
2019-12-13 23:44:06 |
| BRCA2 |
c.36dupT |
p.Glu13Terfs |
NM_000059.3(BRCA2):c.36dupT (p.Glu13Terfs) |
66177 |
https://messageboard.facingourrisk.org/t/brca-2-c-36dupt-p-glu13-aka-264inst/1402 |
FORCE "Share your mutation" |
2019-12-13 23:44:06 |
| BRCA2 |
c.5073dupA |
p.Trp1692Metfs |
NM_000059.3(BRCA2):c.5073dupA (p.Trp1692Metfs) |
37943 |
https://messageboard.facingourrisk.org/t/brca2-c-5073-dupa/2037 |
|
2019-12-13 23:44:06 |
| BRCA2 |
c.5303_5304delTT |
p.Leu1768Argfs |
NM_000059.3(BRCA2):c.5303_5304delTT (p.Leu1768Argfs) |
37957 |
https://messageboard.facingourrisk.org/t/brca2-5303-5304deltt/1318 |
FORCE "Share your Mutation" forum |
2019-12-13 23:44:06 |
| BRCA2 |
c.538_539dupAT |
p.Ser181Phefs |
NM_000059.3(BRCA2):c.538_539dupAT (p.Ser181Phefs) |
51851 |
https://messageboard.facingourrisk.org/t/brca2c-538-539dupat-anyone-else/1494 |
This is a FORCE "Share your mutation" forum |
2019-12-13 23:44:06 |
| BRCA2 |
c.5614A>T |
p.Lys1872Ter |
NM_000059.3(BRCA2):c.5614A>T (p.Lys1872Ter) |
37979 |
https://messageboard.facingourrisk.org/t/anyone-else-brca2-c-5614a-t/719/2 |
|
2019-12-13 23:44:06 |
| BRCA2 |
c.5946delT |
p.Ser1982Argfs |
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) |
9325 |
https://messageboard.facingourrisk.org/t/brca2-6174-delete-t/49/8 |
Additional Forum links: https://www.facebook.com/groups/BRCA2.6174delT/ https://messageboard.facingourrisk.org/t/brca-2-c-5946delt/2155 |
2019-12-13 23:44:06 |
| BRCA2 |
c.67+1G>A |
|
NM_000059.3(BRCA2):c.67+1G>A |
66828 |
https://messageboard.facingourrisk.org/t/brca2-c-67-1g-a/1478 |
FORCE "share your variant" forum |
2019-12-13 23:44:06 |
| BRCA2 |
c.6757_6758delCT |
p.Leu2253fs |
NM_000059.3(BRCA2):c.6755_6756CT[1] (p.Leu2253fs) |
52177 |
https://messageboard.facingourrisk.org/c/share-your-mutation |
Also known as 6985delCT and c.6755_6756CT |
2019-12-13 23:44:06 |
| BRCA2 |
c.7007G>C |
p.Arg2336Pro |
NM_000059.3(BRCA2):c.7007G>C (p.Arg2336Pro) |
66909 |
https://messageboard.facingourrisk.org/t/brca2-p-arg2336pro/711 |
Additional links: https://messageboard.facingourrisk.org/t/brca2-c-7007g-c-anyone-else/4890 |
2019-12-13 23:44:06 |
| BRCA2 |
c.7069_7070del |
p.Leu2357fs |
NM_000059.3(BRCA2):c.7069_7070del (p.Leu2357fs) |
38082 |
https://messageboard.facingourrisk.org/t/brca2-c-7069-7070del/1625 |
FORCE "Share Your Mutation" forum |
2019-12-13 23:44:06 |
| BRCA2 |
c.7976G>A |
p.Arg2659Lys |
NM_000059.3(BRCA2):c.7976G>A (p.Arg2659Lys) |
38131 |
https://messageboard.facingourrisk.org/t/brca2-c-7976g-a/1336 |
FORCE "Share Your Mutation" forum |
2019-12-13 23:44:06 |
| BRCA2 |
c.8953+1G>T |
|
NM_000059.3(BRCA2):c.8953+1G>T |
38198 |
https://messageboard.facingourrisk.org/t/brca2-c-8953-1g-t/1904 |
|
2019-12-13 23:44:06 |
| BRCA2 |
c.9097del |
p.Thr3033fs |
NM_000059.3(BRCA2):c.9097del (p.Thr3033fs) |
38209 |
https://messageboard.facingourrisk.org/t/brca-2-c-9097dela/533 |
Also known as 9325delA |
2019-12-13 23:44:06 |
| BRCA2 |
c.9182T>A |
p.Leu3061Ter |
NM_000059.3(BRCA2):c.9182T>A (p.Leu3061Ter) |
52769 |
https://messageboard.facingourrisk.org/t/looking-for-origin-of-this-mutation/1140/8 |
|
2019-12-13 23:44:06 |
| BRIP1 |
c.2392C>T |
p.Arg798Ter |
https://www.ncbi.nlm.nih.gov/clinvar/variation/4738/ |
4738 |
https://messageboard.facingourrisk.org/t/brip1-variant-of-uncertain-significance/983/7 |
Also known as R798* |
2019-12-13 23:44:06 |
| BRIP1 |
c:341C>A |
p.Pro114GIn |
NM_032043.2(BRIP1):c.341C>A (p.Pro114Gln) |
407838 |
https://messageboard.facingourrisk.org/t/brip1-variant-of-uncertain-significance/983 |
|
2019-12-13 23:44:06 |
| PALB2 |
c.168_171delTTGT |
p.Gln60Argfs*7 |
NM_024675.4(PALB2):c.168_171delTTGT |
126623 |
https://messageboard.facingourrisk.org/t/palb2-c-172-175del-p-gin60argfs-7/1924 |
Note: nomenclature change - https://messageboard.facingourrisk.org/t/atm-and-palb2/6272 |
2019-12-13 23:44:06 |
| PALB2 |
c.3549C>G |
p.Y1183* |
NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) |
1245 |
https://csn.cancer.org/node/311776 |
PALB2 c.3549C>A is a different variant that also creates the same protein change (same p. identifier) |
2019-12-13 23:44:06 |
| PALB2 |
c.757-758delCT |
|
NM_024675.3(PALB2):c.757_758delCT |
126768 |
https://messageboard.facingourrisk.org/t/palb2-c-757-758-del-ct/1919 |
|
2019-12-13 23:44:06 |
| BRCA2 |
c.2957dupA |
p.Asn986Lysfs |
NM_000059.3(BRCA2):c.2957dupA (p.Asn986Lysfs) |
51378 |
https://messageboard.facingourrisk.org/t/brca2-3185insa/2128 |
|
2020-01-31 17:47:29 |
| BRCA1 |
c.66_67delAG |
p.Glu23fs |
NM_007294.3(BRCA1):c.66_67AG[1] (p.Glu23fs) |
32701 |
https://messageboard.facingourrisk.org/t/brca1-185delag/236/7 |
Additional links: https://messageboard.facingourrisk.org/t/brca1-c-66-67ag-1-p-glu23fs/5990 |
2020-01-31 17:51:55 |
| BRCA1 |
c.3331_3334del |
p.Gln1111fs |
NM_007294.3(BRCA1):c.3331_3334del (p.Gln1111fs) |
37523 |
https://messageboard.facingourrisk.org/t/brca1-3450del4/1738/2 |
|
2020-01-31 17:54:59 |
| BRCA2 |
c.4449delA |
p.Asp1484fs |
NM_000059.3(BRCA2):c.4449del (p.Asp1484fs) |
37904 |
https://messageboard.facingourrisk.org/t/brca2-c-4449dela/2159 |
|
2020-01-31 18:02:17 |
| BRCA1 |
c.4951T>C |
p.Ser1651Pr |
NM_007294.3(BRCA1):c.4951T>C (p.Ser1651Pro) |
246002 |
https://messageboard.facingourrisk.org/t/c-4951t-c-p-ser1651pro/2168 |
|
2020-01-31 18:04:10 |
| BRCA1 |
c.3748G>T |
p.E1250* |
NM_007299.4(BRCA1):c.788-751G>T |
17672 |
https://messageboard.facingourrisk.org/t/my-story-brca1-c-3748g-t/2290 |
|
2020-01-31 18:30:35 |
| BRCA2 |
c.8165C>G |
p.Thr2722Arg |
NM_000059.3(BRCA2):c.8165C>G (p.Thr2722Arg) |
9340 |
https://messageboard.facingourrisk.org/t/c-8165c-g/2181 |
|
2020-01-31 23:34:07 |
| BRCA2 |
c.3545_3546del |
p.Gln1181_Phe1182insTer |
NM_000059.3(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) |
37846 |
https://messageboard.facingourrisk.org/t/brca-2-c-3545-3546deltt/2192/2 |
|
2020-01-31 23:37:17 |
| BRCA2 |
c.2808_2811del |
p.Ala938Profs |
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) |
9322 |
https://messageboard.facingourrisk.org/t/brca2-c-2808-2811delacaa/2229 |
|
2020-01-31 23:43:44 |
| BRCA2 |
c.7480C>T |
p.Arg2494Ter |
NM_000059.3(BRCA2):c.7480C>T (p.Arg2494Ter) |
38099 |
https://messageboard.facingourrisk.org/t/brca2-c-7480c-t/2170 |
Additional links: https://messageboard.facingourrisk.org/t/brca2-c-7480c-p-arg2494-decisions/6234 |
2020-02-01 00:47:52 |
| BRCA1 |
c.1418dup |
p.(Asn473Lysfs*7) |
|
|
https://messageboard.facingourrisk.org/t/c1418dupa-brca1/2132 |
|
2020-02-01 00:57:10 |
| BRCA1 |
c.2934T>G |
p.Tyr978Ter |
NM_007294.3(BRCA1):c.2934T>G (p.Tyr978Ter) |
37493 |
https://messageboard.facingourrisk.org/t/brca1-c-2934t-g-y978-deleterious-and-heterozygous/2185 |
|
2020-02-01 01:00:29 |
| BRCA2 |
c.5796_5797del |
p.His1932fs |
NM_000059.3(BRCA2):c.5796_5797del (p.His1932fs) |
51940 |
https://messageboard.facingourrisk.org/t/brca2-c-6024delta/2493 |
|
2020-02-01 01:12:34 |
| BRCA1 |
c.1504_1508del |
p.Leu502fs |
NM_007294.3(BRCA1):c.1504_1508del (p.Leu502fs) |
37417 |
https://messageboard.facingourrisk.org/t/brca1-1623del5/2592 |
|
2020-02-01 01:16:30 |
| CHEK2 |
c.507del |
p.Phe169fs |
NM_007194.4(CHEK2):c.507del (p.Phe169fs) |
|
https://messageboard.facingourrisk.org/t/my-mutation-is-chek2-c-190g-a-p-glu64lys/475/2 |
|
2020-02-03 16:40:13 |
| BRCA2 |
c.8167G>C |
p.Asp2723His |
NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His) |
52515 |
https://messageboard.facingourrisk.org/t/brca2-c-8167g-c-p-asp2723his/2130 |
|
2020-02-03 16:43:09 |
| BRCA1 |
c.5136G>A |
p.Trp1712Ter |
NM_007294.3(BRCA1):c.5136G>A (p.Trp1712Ter) |
55410 |
https://messageboard.facingourrisk.org/t/brca1-c-5136g-a/2677 |
|
2020-02-03 16:45:33 |
| BRCA2 |
c.4876_4877del |
p.Asn1626fs |
NM_000059.3(BRCA2):c.4876_4877del (p.Asn1626fs) |
37929 |
https://messageboard.facingourrisk.org/t/brca2-5104delaa-c-4876-4877del/4395 |
Additional Forum links: https://messageboard.facingourrisk.org/t/brca2-c-4876-4877del/2715
https://messageboard.facingourrisk.org/t/brca2-called-5104delaa-now-c-4876-4877del/4555 |
2020-02-03 16:48:42 |
| BRCA1 |
c.3756_3759del |
p.Ser1253fs |
NM_007294.3(BRCA1):c.3752_3755GTCT[1] (p.Ser1253fs) |
17673 |
https://messageboard.facingourrisk.org/t/brca1-c-3756-3759delgtct/2341 |
https://messageboard.facingourrisk.org/t/anyone-have-brca-1-c-3756-3759del-p-ser1253argfs-10/3712 |
2020-02-03 16:56:03 |
| ATM |
c.7187C>G |
p.Thr2396Ser |
NM_000051.3(ATM):c.7187C>G (p.Thr2396Ser) |
127438 |
https://messageboard.facingourrisk.org/t/atm-7187c-g-p-thr2396ser/2901 |
Listed (mostly) as a variant of uncertain significance in ClinVar |
2020-02-20 14:30:33 |
| BRCA2 |
c.5722_5723delCT |
p.Leu1908Argfs*2 |
NM_000059.3(BRCA2):c.5718_5719CT[2] (p.Leu1908fs) |
9320 |
https://messageboard.facingourrisk.org/t/brca2-c-5722-5723del-p-leu1908argfs-2/2942 |
FORCE "Share Your Mutation" forum |
2020-02-24 20:33:03 |
| BRCA2 |
c.4474_4477AAAGdel |
p.Glu1493fs |
NM_000059.3(BRCA2):c.4474_4477AAAG[1] (p.Glu1493fs) |
51653 |
https://messageboard.facingourrisk.org/t/brca2-4706del4/3028 |
|
2020-03-19 18:00:08 |
| BRCA1 |
c.1961delA |
p.Lys654SerfsTer47 |
NM_007294.3(BRCA1):c.1961del (p.Lys654fs) |
37438 |
https://messageboard.facingourrisk.org/t/brca1-c-1961dela-p-lys654serfster47-commonly-c-2080dela/3230 |
|
2020-05-07 17:33:08 |
| PALB2 |
c.2267_2283dup |
p.His762Alafs*8 |
NM_024675.3(PALB2):c.2267_2283dup (p.His762fs) |
245890 |
http://facebook.com/palb2warriors |
17bp duplication in exon 5 |
2020-06-15 18:09:15 |
| BRCA1 |
c.181T>G |
(p.Cys61Gly) |
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) |
17661 |
https://messageboard.facingourrisk.org/t/brca1-c61g-or-181t-g/3465 |
https://messageboard.facingourrisk.org/t/brca-1-p-c61g-c-181t-g/5207 https://www.facebook.com/groups/353310162208233/ |
2020-06-24 18:33:57 |
| RAD51C |
c.577C>T |
p.Arg193Ter |
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) |
140849 |
http://connectmyvariant.org/forum-index |
|
2020-07-01 18:04:11 |
| BRCA1 |
c.3700_3704del |
p.Val1234fs |
NM_007294.4(BRCA1):c.3695_3699GTAAA[1] (p.Val1234fs) |
37542 |
https://messageboard.facingourrisk.org/t/brca1-c-3700-3704del-p-val1234glnfs-8/3286 |
This variant was noted to be common in the Czech population |
2020-07-15 18:40:06 |
| BRCA2 |
c.3648dup |
p.Arg1217Ter |
NM_000059.4(BRCA2):c.3648dup (p.Arg1217Ter) |
921289 |
https://messageboard.facingourrisk.org/t/brca2-3648dup/3293 |
|
2020-07-15 18:44:21 |
| BRCA2 |
c.4638del |
p.Phe1546fs |
NM_000059.3(BRCA2):c.4638del (p.Phe1546fs) |
37915 |
https://messageboard.facingourrisk.org/t/brca2-c-4638del/3393 |
AKA 4866delT |
2020-07-15 18:53:58 |
| BRCA1 |
c.4986+3G>T |
|
NM_007294.4(BRCA1):c.4986+3G>T |
868482 |
https://messageboard.facingourrisk.org/t/brca-1-c-4986-3g-t/3414 |
|
2020-07-15 19:57:32 |
| BRCA1 |
c.5266dupC |
p.Gln1756Profs |
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) |
17677 |
https://messageboard.facingourrisk.org/t/brca-1-c-5266dupc/1892 |
Additional Link: https://messageboard.facingourrisk.org/t/brca1-c-5266dup/6147/3 |
2020-07-15 22:59:19 |
| BRCA1 |
c.2269del |
p.Val757fs |
NM_007294.4(BRCA1):c.2269del (p.Val757fs) |
37459 |
https://messageboard.facingourrisk.org/t/c2269-delg-p-val757fs/3443 |
|
2020-07-16 16:18:49 |
| BRCA2 |
c.3160_3163del |
p.Asp1054fs |
NM_000059.3(BRCA2):c.3160_3163del (p.Asp1054fs) |
37824 |
https://messageboard.facingourrisk.org/t/c-3160-3163delgata-in-exon-10-in-brca2-gene/3455 |
|
2020-07-16 16:36:46 |
| BRCA1 |
c.5173_5176GAAA |
p.Arg1726fs |
NM_007294.4(BRCA1):c.5173_5176GAAA[1] (p.Arg1726fs) |
37644 |
https://messageboard.facingourrisk.org/t/brca1-5296del4/1206 |
|
2020-07-16 17:03:14 |
| BRCA1 |
c.5123C>A |
p.Ala1708Glu |
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) |
55407 |
https://messageboard.facingourrisk.org/t/bcra-1-positive-5123/3446/4 |
|
2020-07-16 17:34:56 |
| BRCA1 |
c.5368del |
p.Ser1790fs |
NM_007294.4(BRCA1):c.5368del (p.Ser1790fs) |
246134 |
https://messageboard.facingourrisk.org/t/brca1-c-5368del-p-ser1790leufs-3/3503 |
|
2020-07-16 20:21:29 |
| BRCA2 |
c.3717del |
p.Lys1239fs |
NM_000059.3(BRCA2):c.3717del (p.Lys1239fs) |
37855 |
https://messageboard.facingourrisk.org/t/brca2-c-3717dela/3520 |
|
2020-07-16 20:39:22 |
| BRCA2 |
c.145G>T |
p.GLu49Ter |
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) |
51129 |
https://messageboard.facingourrisk.org/t/brca2-c-145g-t-aka-e49-anyone-here/3784 |
|
2020-08-22 09:48:10 |
| BRCA2 |
c.5350_5351delAA |
Asn1784Hisfs |
|
37959 |
https://messageboard.facingourrisk.org/t/brca2-c-5350-5351del/3434 |
|
2020-08-25 17:40:17 |
| BRCA2 |
c.2971_2983del |
p.Asn991Aspfs*3 |
NM_000059.3(BRCA2):c.2971_2983del (p.Asn991fs) |
266730 |
https://messageboard.facingourrisk.org/t/brca2-c-2971-2983del/3897 |
|
2020-09-06 19:34:54 |
| BRCA1 |
c.929del |
p.Gln310fs |
|
37708 |
https://messageboard.facingourrisk.org/t/brca1-c-929del-p-gln310fs/3549 |
|
2020-09-10 21:35:51 |
| BRCA1 |
c.1796_1800del CTTAT |
|
|
37756 |
https://messageboard.facingourrisk.org/t/c-1796-1800del-cttat/3559 |
|
2020-09-10 21:40:20 |
| BRCA1 |
BRCA1 c.718C>T |
p.Gln240Ter |
|
266573 |
https://messageboard.facingourrisk.org/t/brca1-c-718c-t-p-gln240-pole-c-3670-3671delinstt-p-ala1224leu/3566 |
|
2020-09-10 21:46:02 |
| BRCA1 |
c.4321del |
p.Asp1441fs |
NM_007294.4(BRCA1):c.4321del (p.Asp1441fs) |
824792 |
https://messageboard.facingourrisk.org/t/brca1-c-4321delg-mutation/3600 |
|
2020-09-10 21:50:08 |
| BRCA2 |
c.7913_7917del |
p.Ala2637_Phe2638insTer |
NM_000059.3(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer) |
38126 |
https://messageboard.facingourrisk.org/t/brca-2-c-7913-7917-del-ttct/3606 |
|
2020-09-12 18:45:40 |
| ATM |
c.2T>C |
p.Met1Thr |
NM_000051.3(ATM):c.2T>C (p.Met1Thr) |
187275 |
https://messageboard.facingourrisk.org/t/atm-c-2t-c-p-met1/3685 |
|
2020-09-12 19:58:54 |
| BRCA1 |
c.3400G>T |
p.Glu1134Ter |
NM_007294.4(BRCA1):c.3400G>T (p.Glu1134Ter) |
37529 |
https://messageboard.facingourrisk.org/t/brca1-c-3400g-t-p-glu1134ter/3742 |
|
2020-09-12 20:18:37 |
| BRCA2 |
c.3847_3848del |
p.Val1283fs |
NM_000059.3(BRCA2):c.3847_3848del (p.Val1283fs) |
37859 |
https://messageboard.facingourrisk.org/t/brca2-c-3847-3848delgt/3039 |
|
2020-09-12 20:29:45 |
| BRCA2 |
c.4525C>T |
p.Gln1509Ter |
NM_000059.3(BRCA2):c.4525C>T (p.Gln1509Ter) |
51659 |
https://messageboard.facingourrisk.org/t/brca2-c-4525c-t/3769 |
|
2020-09-12 20:37:01 |
| BRCA2 |
c.250C>T |
p.Gln84Ter |
NM_000059.4(BRCA2):c.250C>T (p.Gln84Ter) |
51298 |
https://messageboard.facingourrisk.org/t/brca2-c-250c-t-p-gln84x/3821 |
|
2020-09-12 20:56:37 |
| BRCA2 |
c.7007+5G>A |
|
NM_000059.3(BRCA2):c.7007+5G>A |
52239 |
https://messageboard.facingourrisk.org/t/brca2-c-7007-5g-a/3879 |
|
2020-09-14 16:19:33 |
| BRCA2 |
c.7007+5G>A |
|
NM_000059.3(BRCA2):c.7007+5G>A |
52239 |
https://messageboard.facingourrisk.org/t/brca2-c-7007-5g-a/3879 |
|
2020-09-14 16:19:34 |
| BRCA2 |
c.9004G>A |
p.Glu3002Lys |
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) |
38201 |
https://messageboard.facingourrisk.org/t/brca2-c-9004g-a-p-glu3002lys/3926 |
|
2020-09-14 16:32:54 |
| CHEK2 |
c.190G>A |
p.Glu64Lys |
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) |
128068 |
https://messageboard.facingourrisk.org/t/my-mutation-is-chek2-c-190g-a-p-glu64lys/475 |
Additional Links: https://messageboard.facingourrisk.org/t/chek2-mutation-c190g-a/4761 |
2020-09-14 16:35:22 |
| BRCA2 |
c.8575del |
p.Gln2859fs |
NM_000059.3(BRCA2):c.8575del (p.Gln2859fs) |
38169 |
https://messageboard.facingourrisk.org/t/brca2-c-8575del-p-gln2859lysfs-4/3974 |
|
2020-10-05 18:43:48 |
| BRCA2 |
BRCA2 5’UTR_EX1del |
|
|
|
https://messageboard.facingourrisk.org/t/brca2-5utr-ex1del/3970/8 |
|
2020-10-05 18:55:12 |
| BRCA1 |
c.1350del |
p.(Lys450Asnfs*3) |
|
|
https://messageboard.facingourrisk.org/t/brca1-1350dela-p-lys450asnfs-3-ovarian-ca-at-40-yrs/3715 |
|
2020-10-05 19:03:27 |
| BRCA2 |
c.6275_6276del |
p.Leu2092Profs*7 |
NM_000059.3(BRCA2):c.6275_6276del (p.Leu2092fs) |
9318 |
https://messageboard.facingourrisk.org/t/brca2-c-6275-6276del/4210 |
|
2020-10-16 15:19:13 |
| PALB2 |
deletion exons 9-11 |
|
|
|
https://messageboard.facingourrisk.org/t/palb2-deletion-exons-9-11/4449 |
|
2020-11-03 20:08:06 |
| PALB2 |
c.2821A>G |
p.Ile941Val |
NM_024675.3(PALB2):c.2821A>G (p.Ile941Val) |
460961 |
https://messageboard.facingourrisk.org/t/palb2-c-2821a-g-p-ile941val/4474 |
Classified as a Variant of Uncertain Significance in ClinVar
Additional forum links: http://www.Color.com |
2020-11-05 05:19:04 |
| AXIN2 |
c.1235A>G |
p.Asn412Ser |
|
|
https://connectmyvariant.org/variant-specific-platform |
|
2020-11-05 20:22:40 |
| BRCA1 |
c.34C>T |
p.Gln12Ter |
NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter) |
54902 |
https://messageboard.facingourrisk.org/t/anyone-got-my-mutation-brca1-c-34c-t-p-gln12ter/4506 |
Additional Forum links: https://facebook.com/groups/2373995702 |
2020-11-09 23:32:00 |
| BRCA1 |
c.4065_4068del |
p.Asn1355fs |
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) |
17674 |
https://messageboard.facingourrisk.org/t/brca-1-c-4065-4068deltcaa/4325 |
|
2020-11-19 22:52:13 |
| PALB2 |
c.2835-?_3113+?del |
p.Ala946_Trp1038del |
NC_000016.10:g.(?_23621352)_(23623140_?)del |
652951 |
https://messageboard.facingourrisk.org/t/palb2-exon-9-10-del-r-2835-3113del-p-ala946-trp1038del/4626 |
There is Czech/Slovak paper where the same mutation is listed with three women from the same family all DX with breast cancer, Granda, Mother, Grand-daughter. |
2020-11-23 16:55:55 |
| PALB2 |
C.172_175del |
P.GIn60Argfs*7 |
|
|
https://messageboard.facingourrisk.org/t/palb2-c-172-175del-p-gin60argfs-7/1924/8?u=tiffanyc84 |
|
2020-12-13 01:19:01 |
| BRCA2 |
c.237_238insG |
|
|
|
https://messageboard.facingourrisk.org/t/brca2-465insg/693 |
|
2021-03-30 00:15:38 |
| BRCA2 |
c.5585_5588del |
p.Val1862fs |
NM_000059.3(BRCA2):c.5585_5588del (p.Val1862fs) |
51885 |
https://messageboard.facingourrisk.org/t/brca2-5813del4/5627 |
|
2021-04-12 19:22:36 |
| BRCA2 |
c.475G>A |
p.Val159Met |
NM_000059.3(BRCA2):c.475G>A (p.Val159Met) |
51711 |
https://messageboard.facingourrisk.org/t/brca-2-armenian-descent-anyone/5133 |
|
2021-04-12 19:28:36 |
| BRCA2 |
c.9523G>T |
p.Glu3175Ter |
NM_000059.4(BRCA2):c.9523G>T (p.Glu3175Ter) |
38246 |
https://messageboard.facingourrisk.org/t/brca2-c-9523g-t/5529 |
|
2021-04-15 01:29:24 |
| BRCA2 |
c.1342del |
p.Arg448fs |
NM_000059.3(BRCA2):c.1342del (p.Arg448fs) |
531275 |
https://messageboard.facingourrisk.org/t/brca2-1342delc/5349 |
|
2021-04-15 01:39:32 |
| PALB2 |
c.509_510del |
|
NM_024675.4(PALB2):c.509_510del |
126757 |
https://messageboard.facingourrisk.org/t/palb2-c-509-510delga-p-arg170llefs/4623 |
Additional links: https://messageboard.facingourrisk.org/t/palb2-c-509-510del-p-arg170llefs-14/5755 |
2021-04-15 02:50:41 |
| CHEK2 |
c.277del |
(p.Trp93fs) |
NM_007194.4(CHEK2):c.277del (p.Trp93fs) |
187085 |
https://messageboard.facingourrisk.org/t/chek2-mutation-c-277del-p-trp93glyfs-17/5252 |
|
2021-04-15 02:58:56 |
| PALB2 |
c.3116del |
p.Asn1039llefs*2 |
NM_024675.3(PALB2):c.3116del (p.Asn1039fs) |
126715 |
https://messageboard.facingourrisk.org/t/palb2-variant-c-3116del-p-asn1039llefs-2/4696 |
Additional Links: https://messageboard.facingourrisk.org/t/palb2-c-3116del-p-asn1039fs/6423 |
2021-04-15 19:03:49 |
| BRCA1 |
c.5109T>G |
p.Tyr1703Ter |
NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter) |
55403 |
https://messageboard.facingourrisk.org/t/brca1-p-y1703-c-5109t-g/4822 |
|
2021-04-15 19:08:46 |
| BRCA2 |
c.8535_8538del |
p.Glu2846aLysfs*16 |
NM_000059.4(BRCA2):c.8535_8538del (p.Glu2846fs) |
52615 |
https://messageboard.facingourrisk.org/t/c-8535-8538del-p-glu2846lysfs-16/873 |
|
2021-04-30 21:12:03 |
| CHEK2 |
c.1100del |
p.Thr367fs |
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) |
128042 |
https://messageboard.facingourrisk.org/t/chek2-c-1100del-heterozygous/2730 |
Additional Links: https://messageboard.facingourrisk.org/t/chek2-c-1100del/5437 |
2021-05-02 05:26:14 |
| PALB2 |
c.2336C>G |
p.Ser779* |
NM_024675.3(PALB2):c.2336C>G (p.Ser779Ter) |
186458 |
https://www.facebook.com/groups/113514819289505 |
|
2021-07-11 14:55:16 |
| PALB2 |
c.3113G>A |
p.Trp1038* |
NM_024675.3(PALB2):c.3113G>A (p.Trp1038Ter) |
126711 |
https://www.facebook.com/groups/587473648910308/ |
|
2021-07-13 18:30:26 |
| PALB2 |
c.2325dup |
p.Phe776ilefs*26 |
NM_024675.3(PALB2):c.2325dup (p.Phe776fs) |
232803 |
https://www.facebook.com/groups/113514819289505 |
|
2021-07-14 04:34:13 |
| NBN |
c.657_661del |
p.Lys219fs |
NM_002485.5(NBN):c.657_661del (p.Lys219fs) |
6940 |
https://messageboard.facingourrisk.org/t/nbn-mutation/6285 |
|
2021-07-20 15:54:51 |
| BRCA2 |
c.9435_9436del |
p.Ser3147fs |
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs) |
38240 |
https://messageboard.facingourrisk.org/t/9663delgt/4068 |
|
2021-07-26 17:16:48 |
| BRCA1 |
c.5080G>T |
p.Glu1694Ter |
NM_007294.4(BRCA1):c.5080G>T (p.Glu1694Ter) |
55387 |
https://messageboard.facingourrisk.org/t/brca1-c-5080g-t-p-glu1694/4385 |
|
2021-07-26 17:50:05 |
| CHEK2 |
c.1283C>T |
p.Ser428Phe |
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) |
5603 |
https://messageboard.facingourrisk.org/t/check2-mutation/2878/12 |
This variant is mentioned once in the forum. |
2021-08-03 18:39:57 |
| CHEK2 |
c.470T>C |
p.Ile157Thr |
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) |
5591 |
https://messageboard.facingourrisk.org/t/chek2-heterozygous-p-i157t/4392 |
Additional Links: https://messageboard.facingourrisk.org/t/chek2-c-470t-and-blm/5726/8 |
2021-08-03 18:46:42 |
| BRCA2 |
c.4415_4418del |
p.Lys1472fs |
NM_000059.4(BRCA2):c.4415_4418del (p.Lys1472fs) |
37902 |
https://messageboard.facingourrisk.org/t/brca2-c-4415-4418del/4445 |
|
2021-08-03 19:08:11 |
| BRCA2 |
c.7878G>C |
p.Trp2626Cys |
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) |
38125 |
https://messageboard.facingourrisk.org/t/brca2-c-7878g-c-heterozygous/4516 |
|
2021-08-04 21:24:57 |
| BRCA2 |
c.7762_7764delinsTT |
p.Ile2588fs |
NM_000059.4(BRCA2):c.7762_7764delinsTT (p.Ile2588fs) |
233493 |
https://messageboard.facingourrisk.org/t/brca2-7990-del3-ins2/4508 |
|
2021-08-16 17:16:26 |
| PALB2 |
c.592C>T |
p.His198Tyr |
NM_024675.4(PALB2):c.592C>T (p.His198Tyr) |
1035297 |
https://messageboard.facingourrisk.org/t/palb2-genetic-test-positive/4575 |
Created 08/16/21 |
2021-08-16 20:53:52 |
| BRCA1 |
c.3612del |
p.Ala1206fs |
NM_007294.4(BRCA1):c.3612del (p.Ala1206fs) |
37533 |
https://messageboard.facingourrisk.org/t/brca1-with-3612del/4592 |
|
2021-08-16 21:12:19 |
| BRCA1 |
c.1999C>T |
p.Gln667Ter |
NM_007294.4(BRCA1):c.1999C>T (p.Gln667Ter) |
54430 |
https://messageboard.facingourrisk.org/t/brca1-q667x/4186/2 |
|
2021-08-16 21:27:40 |
| BRCA1 |
c.5194-1G>A |
|
NM_007294.3(BRCA1):c.5194-1G>A |
125804 |
https://messageboard.facingourrisk.org/t/brca1-c-5194-1g-a/4644 |
|
2021-08-16 21:38:28 |
| BRCA1 |
c.4868C>G |
p.Ala1623Gly |
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) |
37614 |
https://messageboard.facingourrisk.org/t/brca1-c-4868c-g/4704 |
|
2021-08-17 18:47:39 |
| BRCA2 |
c.771_775del |
|
NM_000059.4(BRCA2):c.771_775del |
9326 |
https://messageboard.facingourrisk.org/t/anyone-brca2-c771-775del-p-asn257lysfs-17/4707 |
|
2021-08-17 18:53:23 |
| BRCA2 |
c.6474dup |
p.Gln2159fs |
NM_000059.3(BRCA2):c.6474dup (p.Gln2159fs) |
438998 |
https://messageboard.facingourrisk.org/t/brca2-c-6474dupt/4709 |
|
2021-08-17 18:58:20 |
| BRCA2 |
c.631+2T>G |
|
NM_000059.4(BRCA2):c.631+2T>G |
9349 |
https://messageboard.facingourrisk.org/t/brca2-ivs7-2t-g-aka-c-631-2t-g/4725 |
|
2021-08-17 19:01:31 |
| PALB2 |
c.2964del |
p.Gln988_Val989insTer |
NM_024675.3(PALB2):c.2964del (p.Gln988_Val989insTer) |
141560 |
https://messageboard.facingourrisk.org/t/my-mutation-is-palb2-c-2964del-p-val989/4695 |
|
2021-08-17 19:18:18 |
| BRCA2 |
c.6486_6489del |
p.Lys2162fs |
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) |
38048 |
https://messageboard.facingourrisk.org/t/looking-for-other-brca-2-variant-c-6486-6489del/4855 |
|
2021-08-17 19:42:05 |
| BRIP1 |
c.2492+2dup |
|
NM_032043.2(BRIP1):c.2492+2dup |
128174 |
https://messageboard.facingourrisk.org/t/brip1-variant-of-uncertain-significance/983/12 |
|
2021-08-25 20:45:21 |
| MLH1 |
c.445C>T |
p.Gln149Ter |
NM_000249.3(MLH1):c.445C>T (p.Gln149Ter) |
90219 |
https://messageboard.facingourrisk.org/t/lynch-q149x-445c-t-mlh1-denovo/4967 |
|
2021-08-25 20:51:23 |
| BRCA2 |
c.658_659del |
|
NM_000059.4(BRCA2):c.658_659del |
9342 |
https://messageboard.facingourrisk.org/t/brca2-c-658-659del-p-val220llefs-4/4962 |
Additional Links: https://messageboard.facingourrisk.org/t/brca2-c-658-659delgt-p-val220fs-886delgt/4961 |
2021-08-25 20:58:32 |
| PMS2 |
c.11C>G |
p.Ala4Gly |
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) |
232589 |
https://messageboard.facingourrisk.org/t/pms2-c-11c-g-aka-p-a4g/5024 |
|
2021-08-25 21:18:33 |
| BRCA2 |
c.7617+1G>A |
|
NM_000059.4(BRCA2):c.7617+1G>A |
52362 |
https://messageboard.facingourrisk.org/t/brca2-c-7617-1g-a/5071 |
|
2021-08-27 14:56:26 |
| CHEK2 |
c.1555C>T |
p.Arg519Ter |
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) |
128064 |
https://messageboard.facingourrisk.org/t/chek2-c-1555c/5118 |
Additional links: https://messageboard.facingourrisk.org/t/chek2-c-1555c-t-p-arg519/4957 |
2021-08-27 15:07:39 |
| MLH1 |
c.(?_1732)_(2271_?)del |
|
NM_000249.3(MLH1):c.(?_1732)_(2271_?)del |
517462 |
https://messageboard.facingourrisk.org/t/mlh1-exon-16-19-del/5204 |
This mutation has arisen independently in more than one family; different individuals reported to have an ex16-19 deletion may have different breakpoints and may not share a common ancestor. |
2021-09-07 14:55:28 |
| ATM |
c.7630-2A>C |
|
NM_000051.4(ATM):c.7630-2A>C |
127447 |
https://messageboard.facingourrisk.org/t/atm-mutation-pregnant/5268 |
Additional links:https://messageboard.facingourrisk.org/t/check2-and-atm-positive-feelings/5290 |
2021-09-07 15:12:17 |
| BRCA2 |
c.1668_1671delinsATT |
p.Asn556fs |
NM_000059.3(BRCA2):c.1668_1671delinsATT (p.Asn556fs) |
266649 |
https://messageboard.facingourrisk.org/t/c-1668-1671delinsatt/5570 |
|
2021-09-13 16:16:43 |
| BRCA2 |
c.1389_1390del |
p.Val464fs |
NM_000059.3(BRCA2):c.1389_1390del (p.Val464fs) |
51113 |
https://messageboard.facingourrisk.org/t/brca2-c-1389-1390delag-or-brca2-c-449a-g/5790 |
|
2021-09-13 17:02:04 |
| CHEK2 |
c.606del |
p.Phe202fs |
NM_007194.4(CHEK2):c.606del (p.Phe202fs) |
265538 |
https://messageboard.facingourrisk.org/t/chek2-c-470t-more-info/1658/3 |
The fourth commenter on the FORCE forum has this mutation. |
2021-09-22 18:32:18 |
| BRCA2 |
c.3158T>G |
p.Leu1053Ter |
NM_000059.4(BRCA2):c.3158T>G (p.Leu1053Ter) |
37820 |
https://messageboard.facingourrisk.org/t/brca2-c-3158t-g-p-leu1053/5872 |
|
2021-09-22 18:49:58 |
| BRCA1 |
c.514del |
p.Gln172fs |
NM_007294.4(BRCA1):c.514del (p.Gln172fs) |
55421 |
https://messageboard.facingourrisk.org/t/brca1-c-514del-p-gin172asnfs-62/5888 |
|
2021-09-22 19:05:30 |
| BRCA2 |
c.6681dup |
p.Val2228fs |
NM_000059.3(BRCA2):c.6681dup (p.Val2228fs) |
441419 |
https://messageboard.facingourrisk.org/t/brca2-c-6681dupa-p-v2228sfsx5-positive/6019 |
|
2021-09-29 18:11:14 |
| BRCA2 |
c.6468_6469del |
p.Gln2157fs |
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs) |
38047 |
https://messageboard.facingourrisk.org/t/brca2-c-6468-6469del/5999 |
|
2021-09-29 18:14:56 |
| ATM |
c.2849T>G |
p.Leu950Arg |
NM_000051.3(ATM):c.2849T>G (p.Leu950Arg) |
186574 |
https://messageboard.facingourrisk.org/t/atm-c-2849t-g-anybody/6209 |
|
2021-09-29 18:43:03 |
| RAD51C |
c.1026+5_1026+7del |
|
NM_058216.3(RAD51C):c.1026+5_1026+7del |
128201 |
https://messageboard.facingourrisk.org/t/rad51c-and-post-debulk-chemo-treatment/4544 |
|
2021-10-11 23:58:26 |
| BRCA1 |
c.1016dup |
p.Val340fs |
NM_007294.4(BRCA1):c.1016dup (p.Val340fs) |
54102 |
https://messageboard.facingourrisk.org/t/braca1-c-1016dupa-anyone-else/6420 |
|
2021-10-14 02:16:01 |
| CHEK2 |
c.444+1G>A |
|
NM_007194.4(CHEK2):c.444+1G>A |
128075 |
https://messageboard.facingourrisk.org/t/family-cancer-chek2/570 |
Additional Links: https://messageboard.facingourrisk.org/t/check2-and-atm-positive-feelings/5290 |
2021-10-22 17:12:15 |
