List of variants

Gene coding change (c.) protein change (p.) ClinVar Name ClinVarID Forum Url Notes Created
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