GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
BRCA2 S158Pinsufficiently evaluated not reviewedunknown
BRCA2 N289Hinsufficiently evaluated none, f=0.029unknown

(75 web hits)

CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18537-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS18526-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
BRCA2 N372Huncertain pathogenic, f=0.237recessive

This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.

(549 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS21767-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
var-GS18526-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
BRCA2 I411Tinsufficiently evaluated none, f=0.008unknown var-GS19129-1100-36-ASM
BRCA2 T598Ainsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
BRCA2 M784Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
BRCA2 R841Kinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
BRCA2 L929Sinsufficiently evaluated not reviewed, f=0.004unknown var-GS18504-1100-36-ASM
BRCA2 S976Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS19700-1100-36-ASM
BRCA2 N987Iinsufficiently evaluated not reviewed, f=0.003unknown var-GS18504-1100-36-ASM
BRCA2 N991Dinsufficiently evaluated not reviewed, f=0.035unknown

(59 web hits)

hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18537-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
BRCA2 N1198Shiftpathogenicunknown

This frameshift introduces a premature stop codon. Frameshifts in the BRCA2 tumor-suppressing gene region are considered pathogenic (see “Discussion” -> “Novel Mutations” subsection in http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3583621/).

BRCA2 C1290Yinsufficiently evaluated not reviewed, f=0.004unknown var-GS19020-1100-36-ASM
var-GS21767-1100-36-ASM
BRCA2 I1364Linsufficiently evaluated not reviewed, f=0.007unknown var-GS19239-1100-36-ASM
BRCA2 T1414Minsufficiently evaluated none, f=0.002unknown

(5 web hits)

BRCA2 E1550Xinsufficiently evaluated pathogenicunknown

(5 web hits)

BRCA2 N1805Sinsufficiently evaluated not reviewedunknown

(3 web hits)

BRCA2 F1866Shiftpathogenicunknown

This frameshift introduces a premature stop codon. Frameshifts in the BRCA2 tumor-suppressing gene region are considered pathogenic (see “Discussion” -> “Novel Mutations” subsection in http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3583621/).

CGI sample GS01175-DNA_G03 from PGP sample 92527586
BRCA2 S1882Xinsufficiently evaluated pathogenicunknown

(18 web hits)

BRCA2 D1902Ninsufficiently evaluated not reviewed, f=0.006unknown

(6 web hits)

hu3215A7 build 36 substitution variants (hom)
hu728FFF build 36 substitution variants
BRCA2 T1915Muncertain protective, f=0.021unknown

Serrano-Fernández et al. found this variant to be associated with a modest (OR = 1.61) but significant (P = 0.0007) reduction in breast cancer risk.

(82 web hits)

CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000005532
var-GS10851-1100-36-ASM
BRCA2 I1929Vinsufficiently evaluated none, f=0.000dominant

This variant has been associated with six cancer cases in the East Asian populations, but it was also reported in one control and one benign breast cancer case. In the literature it is of unknown significance.

(4 web hits)

BRCA2 S1982RShiftinsufficiently evaluated not reviewedunknown

Increases risk for BRCA2-related Fanconi Anemia (Fanconi anemia complementary group D1), especially if found in compound heterozygosity with other BRCA2 deleterious variants. Slightly increases risk (by 9.2%) for early-onset breast cancer (investigated in Ashkenazi Jewish population). Slight increased risk for late-onset pancreatic cancer (7% in carriers versus 0.85% in the general population).

BRCA2 S1982Shiftpathogenicdominant

This is a “classic” founder mutation in the Ashkenazi jewish population. This mutation increases the average cumulative lifetime risk of breast cancer (in women) by 33%. (45% vs 12%)

BRCA2 V2010Ginsufficiently evaluated noneunknown

(3 web hits)

BRCA2 F2058Iinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
BRCA2 V2109Iinsufficiently evaluated none, f=0.008unknown

(8 web hits)

var-GS18956-1100-36-ASM
BRCA2 H2116Rinsufficiently evaluated not reviewed, f=0.004dominant

Associated with cancer in an African American family.

(9 web hits)

var-GS19025-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
BRCA2 V2138Finsufficiently evaluated not reviewed, f=0.003unknown

(8 web hits)

BRCA2 S2186Tinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
BRCA2 S2213Finsufficiently evaluated none, f=0.008unknown var-GS18555-1100-36-ASM
BRCA2 K2339Ninsufficiently evaluated none, f=0.008unknown

(5 web hits)

BRCA2 H2440Rinsufficiently evaluated none, f=0.011unknown

(4 web hits)

BRCA2 V2466Ainsufficiently evaluated benign, f=0.977dominant

The valine variant was associated with ovarian cancer in one patient, but was later reported as a benign polymorphism in the Yoruba population.

(1 web hit)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
BRCA2 L2510Pinsufficiently evaluated pathogenicunknown

(12 web hits)

BRCA2 A2534Vinsufficiently evaluated noneunknown
BRCA2 A2698Tinsufficiently evaluated not reviewedunknown
BRCA2 Q2714Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
BRCA2 T2722Rinsufficiently evaluated pathogenicunknown

(212 web hits)

BRCA2 K2729Ninsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
BRCA2 L2740Xinsufficiently evaluated pathogenicunknown

(7 web hits)

BRCA2 C2765Yinsufficiently evaluated not reviewedunknown
BRCA2 I2944Finsufficiently evaluated none, f=0.015unknown

(18 web hits)

var-GS19129-1100-36-ASM
BRCA2 A2951Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
BRCA2 V2969Minsufficiently evaluated none, f=0.000unknown

(6 web hits)

BRCA2 Q3066Xinsufficiently evaluated pathogenicunknown

(24 web hits)

BRCA2 K3084NShiftinsufficiently evaluated not reviewedunknown

Breast Cancer Information Core and Sharing Clinical Reports Project have submitted this variant to ClinVar ( http://www.ncbi.nlm.nih.gov/clinvar/variation/91519/ ) as 9252_9255delAACAinsTT. It is associated with early onset breast cancer.

BRCA2 K3084Shiftpathogenicdominant

Breast Cancer Information Core and Sharing Clinical Reports Project have submitted this variant to ClinVar ( http://www.ncbi.nlm.nih.gov/clinvar/variation/91519/ ) as 9252_9255delAACAinsTT. It is associated with early onset breast cancer.

BRCA2 V3244Iinsufficiently evaluated none, f=0.008unknown

(3 web hits)

BRCA2 N3329Sinsufficiently evaluated noneunknown
BRCA2 I3412Vinsufficiently evaluated not reviewed, f=0.038unknown

(42 web hits)

var-GS18504-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19026-1100-36-ASM
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Total results: 51

Gene search

"GENE" or "GENE A123C":

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