rs28897756

plus

Geno	Mag	Summary
(A;A)	6	BRCA2, breast cancer mutation
(A;G)	6	considered a causal BRCA2 mutation for breast cancer
(G;G)	0	normal
(G;T)	6	BRCA2 variant considered pathogenic for breast cancer

Reference

GRCh38 38.1/141

Chromosome

13

Position

32379913

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs28897756
dbSNP (classic)	rs28897756
ClinGen	rs28897756
ebi	rs28897756
HLI	rs28897756
Exac	rs28897756
Gnomad	rs28897756
Varsome	rs28897756
LitVar	rs28897756
Map	rs28897756
PheGenI	rs28897756
Biobank	rs28897756
1000 genomes	rs28897756
hgdp	rs28897756
ensembl	rs28897756
geneview	rs28897756
scholar	rs28897756
google	rs28897756
pharmgkb	rs28897756
gwascentral	rs28897756
openSNP	rs28897756
23andMe	rs28897756
SNPshot	rs28897756
SNPdbe	rs28897756
MSV3d	rs28897756
GWAS Ctlg	rs28897756

Max Magnitude

6

rs28897756, also known as 9345G>A, c.9117G>A, p.Pro3039= and P3039P is a SNP in the breast cancer 2 BRCA2 gene.

The rare rs28897756(A) allele has been linked to increased risk for breast cancer in some Dutch families.[PMID 10638982 ]. It is considered a causal mutation for breast cancer by UMD and is denoted pathogenic in ClinVar.

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 ]

Another name used by 23andMe for this SNP is i5010626.

ClinVar
Risk	Rs28897756(A;A) rs28897756(T;T)
Alt	Rs28897756(A;A) rs28897756(T;T)
Reference	Rs28897756(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32954050G>A; NC_000013.10:g.32954050G>T
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000031798.6, RCV000045725.6, RCV000074560.7, RCV000131039.3, RCV000258500.1,