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>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