| 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>C |
|
NM_007299.4(BRCA1):c.213-11T>G |
37449 |
https://community.breastcancer.org/forum/47/topics/867079 |
Variant also known as IVS5-11T>G |
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 |
|
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 |
FORCE "share your mutation" |
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 |
This is considered a founder mutation in the Ashkenazi Jewish population. |
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 |
FORCE "Share Your Mutation" forum |
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.172_175delTTGT |
p.Gln60Argfs*7 |
NM_024675.3(PALB2):c.172_175delTTGT |
126623 |
https://messageboard.facingourrisk.org/t/palb2-c-172-175del-p-gin60argfs-7/1924 |
also known as 172_175delTTGT |
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_67AG |
p.Glu23fs |
NM_007294.3(BRCA1):c.66_67AG[1] (p.Glu23fs) |
32701 |
https://messageboard.facingourrisk.org/t/brca1-185delag/236/7 |
|
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 |
|
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-c-4876-4877del/2715 |
|
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 |
|
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 |
