rs28897743

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	6	considered a causal BRCA2 breast cancer mutation
(C;G)	6	BRCA2 variant considered pathogenic for breast cancer
(G;G)	0	common in clinvar
(G;T)	6	BRCA2 variant considered pathogenic for breast cancer

Make rs28897743(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32346896

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs28897743
dbSNP (classic)	rs28897743
ClinGen	rs28897743
ebi	rs28897743
HLI	rs28897743
Exac	rs28897743
Gnomad	rs28897743
Varsome	rs28897743
LitVar	rs28897743
Map	rs28897743
PheGenI	rs28897743
Biobank	rs28897743
1000 genomes	rs28897743
hgdp	rs28897743
ensembl	rs28897743
geneview	rs28897743
scholar	rs28897743
google	rs28897743
pharmgkb	rs28897743
gwascentral	rs28897743
openSNP	rs28897743
23andMe	rs28897743
SNPshot	rs28897743
SNPdbe	rs28897743
MSV3d	rs28897743
GWAS Ctlg	rs28897743

Max Magnitude

6

rs28897743, also known as 7235G>T, c.7007G>T and p.Gly2313AlafsX31, as well as Arg2336His or R2336H, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar and UMD.

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249]

23andMe has another SNP for this position, named i5009343.

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs28897743(A;A) rs28897743(C;C) rs28897743(T;T)
Alt	rs28897743(A;A) rs28897743(C;C) rs28897743(T;T)
Reference	Rs28897743(G;G)
Significance	Pathogenic
Disease	Fanconi anemia Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Fanconi anemia, complementation group D1 Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32921033G>A; NC_000013.10:g.32921033G>C; NC_000013.10:g.32921033G>T
CLNSRC	OMIM Allelic Variant Breast Cancer Information Core (BRCA2)
CLNACC	RCV000009923.4, RCV000031659.5, RCV000045112.5, RCV000131031.3, RCV000174440.4, RCV000259151.1, RCV000475925.1, RCV000045113.3, RCV000077394.3, RCV000214499.1, RCV000256059.1, RCV000475905.1, RCV000045114.3, RCV000113685.1, RCV000219635.1,