GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
BRCA1 C61Gpathogenicunknown

(1030 web hits)

BRCA1 C64Gpathogenicunknown

(50 web hits)

BRCA1 R71Ginsufficiently evaluated pathogenicunknown

(111 web hits)

BRCA1 L246Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
BRCA1 Q309Rinsufficiently evaluated noneunknown
BRCA1 Q315Rinsufficiently evaluated noneunknown
BRCA1 V340GShiftinsufficiently evaluated not revieweddominant
BRCA1 V340Shiftpathogenicdominant

This variant predisposes carriers to early-onset breast and ovarian cancer as well as other cancers. This and other BRCA1 variants predispose towards estrogen receptor negative, progesterone receptor negative, and human epidermal growth factor receptor negative breast cancers. BRCA1 V340fs is found in ClinVar at http://www.ncbi.nlm.nih.gov/clinvar/variation/54102/

BRCA1 R341Ginsufficiently evaluated noneunknown
BRCA1 R347Ginsufficiently evaluated noneunknown
BRCA1 Q356Runcertain benign, f=0.046undefined

One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association.

(154 web hits)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
BRCA1 R388Ginsufficiently evaluated noneunknown
BRCA1 K454Rinsufficiently evaluated not reviewedunknown
BRCA1 K460Rinsufficiently evaluated not reviewedunknown
BRCA1 S469Ginsufficiently evaluated noneunknown
BRCA1 S471Ginsufficiently evaluated noneunknown
BRCA1 H476Rinsufficiently evaluated not reviewed, f=0.001unknown var-GS18504-1100-36-ASM
BRCA1 K501Rinsufficiently evaluated not reviewedunknown
BRCA1 S509Ginsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants
BRCA1 E528Ginsufficiently evaluated not reviewedunknown
BRCA1 E534Ginsufficiently evaluated not reviewedunknown
BRCA1 E575Ginsufficiently evaluated not reviewedunknown
BRCA1 D693Ninsufficiently evaluated not reviewed, f=0.053unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19701-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS06985-1100-36-ASM
BRCA1 I714Tinsufficiently evaluated noneunknown
BRCA1 H716Pinsufficiently evaluated noneunknown
BRCA1 I716Tinsufficiently evaluated noneunknown
BRCA1 H718Pinsufficiently evaluated noneunknown
BRCA1 I754Tinsufficiently evaluated noneunknown
BRCA1 H756Pinsufficiently evaluated noneunknown
BRCA1 S766Xinsufficiently evaluated pathogenicunknown
BRCA1 K820Einsufficiently evaluated not reviewed, f=0.010unknown var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS21767-1100-36-ASM
BRCA1 P824Linsufficiently evaluated noneunknown

(16 web hits)

BRCA1 P830Linsufficiently evaluated noneunknown

(2 web hits)

BRCA1 R841Wuncertain benign, f=0.003undefined

Other variants in this gene are associated with breast and ovarian cancer. A 1996 paper proposed this variant as causing increased risk, but their observations lacked statistical significance and no later publications have supported that hypothesis.

(115 web hits)

BRCA1 P871Linsufficiently evaluated not reviewed, f=0.496unknown

While other mutations in BRCA1 are associated with a dramatically increased risk of breast and ovarian cancer, this variant appears to be a polymorphism.

(137 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
BRCA1 S915Xinsufficiently evaluated pathogenicunknown
BRCA1 E991Ginsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
BRCA1 E997Ginsufficiently evaluated noneunknown
BRCA1 E1038Ginsufficiently evaluated not reviewed, f=0.278unknown

(107 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
BRCA1 S1040Ninsufficiently evaluated pathogenic, f=0.017unknown

(52 web hits)

var-GS19703-1100-36-ASM
BRCA1 K1136Rinsufficiently evaluated noneunknown
BRCA1 S1140Ginsufficiently evaluated not reviewed, f=0.012unknown var-GS19025-1100-36-ASM
var-GS19017-1100-36-ASM
BRCA1 K1142Rinsufficiently evaluated noneunknown
BRCA1 D1162Shiftpathogenicdominant

ClinVar reports this variant to predispose carriers to early onset breast cancer, variant and fallopian tube cancer, and other cancers (http://www.ncbi.nlm.nih.gov/clinvar/variation/37531/).

BRCA1 D1162VShiftinsufficiently evaluated pathogenicdominant

ClinVar reports this variant to predispose carriers to early onset breast cancer, variant and fallopian tube cancer, and other cancers (http://www.ncbi.nlm.nih.gov/clinvar/variation/37531/).

BRCA1 K1183Rinsufficiently evaluated none, f=0.295unknown

(94 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
BRCA1 R1203Xinsufficiently evaluated pathogenic, f=0.000unknown

(37 web hits)

BRCA1 E1250Xinsufficiently evaluated pathogenicunknown

(25 web hits)

BRCA1 R1300Ginsufficiently evaluated not reviewedunknown
BRCA1 R1306Ginsufficiently evaluated not reviewedunknown
BRCA1 R1347Guncertain benign, f=0.004unknown

Believed to be a nonpathogenic polymorphism, although Polyphen 2 predicts a damaging effect.

(32 web hits)

var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS20509-1100-36-ASM
BRCA1 R1443Gpathogenicunknown

(14 web hits)

BRCA1 R1443Xpathogenicunknown

(106 web hits)

BRCA1 S1533Iinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
BRCA1 L1564Pinsufficiently evaluated not reviewed, f=0.008unknown var-GS19238-1100-36-ASM
BRCA1 S1566Ginsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
BRCA1 S1572Ginsufficiently evaluated noneunknown
BRCA1 S1613Ginsufficiently evaluated not reviewed, f=0.298unknown

(133 web hits)

hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
hu232307 build 36 substitution variants
var-GS21767-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
BRCA1 S1634Ginsufficiently evaluated not reviewed, f=0.298unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
hu728FFF build 36 substitution variants
BRCA1 M1652Iinsufficiently evaluated not reviewedunknown hu232307 build 36 substitution variants
BRCA1 M1775Kinsufficiently evaluated pathogenicunknown

(178 web hits)

BRCA1 M1775Rinsufficiently evaluated pathogenicunknown

(195 web hits)

BRCA1 I1811Tinsufficiently evaluated noneunknown
BRCA1 H1813Pinsufficiently evaluated noneunknown
BRCA1 I1817Tinsufficiently evaluated noneunknown
BRCA1 H1819Pinsufficiently evaluated noneunknown
BRCA1 Y1853Xinsufficiently evaluated pathogenicunknown

(40 web hits)

BRCA1 I1858Tinsufficiently evaluated pathogenicother

This variant was found in two siblings with early-onset prostate cancer. The variant was in 1 out of 93 probands, similar to the 1000 genomes at 2.7% frequency (3 out of 112), and so this appears to not be significant.

BRCA1 H1860Pinsufficiently evaluated noneunknown
BRCA1 I1879Tinsufficiently evaluated noneunknown
BRCA1 H1881Pinsufficiently evaluated none, f=0.014unknown
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Total results: 71

Gene search

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