| 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 |
| 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 |
| 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 |
| 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 |
|
| 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 |
| 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 |
| 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 |
| 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 |
|
| 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 |
| 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 |
| 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 |
|
| BRCA1 |
c.5277+1G>A |
|
NM_007299.4(BRCA1):c.1965+1G>A |
37654 |
https://messageboard.facingourrisk.org/t/brca1/1897 |
|
| 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" |
| BRCA1 |
c.5406+4_5406+7delAGTA |
|
PMID: 30374176 |
531285 |
|
|
| 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" |
| 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 |
| BRCA1 |
del exon 1-7 |
|
|
|
https://messageboard.facingourrisk.org/t/brca1-del-exons-1-7/1745 |
|
| BRCA1 |
del exon 21 |
|
|
|
https://messageboard.facingourrisk.org/t/brca1-del-exon-21/147 |
|
| 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 |
| 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 |
|
| 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" |
| BRCA2 |
c.5073dupA |
p.Trp1692Metfs |
NM_000059.3(BRCA2):c.5073dupA (p.Trp1692Metfs) |
37943 |
https://messageboard.facingourrisk.org/t/brca2-c-5073-dupa/2037 |
|
| 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 |
| 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 |
| 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 |
|
| BRCA2 |
c.5946delT |
p.Ser1982Argfs |
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) |
9325 |
|
|
| 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 |
| 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 |
| 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 |
| 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 |
|
| 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 |
| 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 |
|
| 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 |
| 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 |
|
| 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* |
| 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 |
|
| 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 |
| 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) |
| PALB2 |
c.757-758delCT |
|
NM_024675.3(PALB2):c.757_758delCT |
126768 |
https://messageboard.facingourrisk.org/t/palb2-c-757-758-del-ct/1919 |
|
