rs80359306

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;A)	6	BRCA2 variant considered pathogenic for breast cancer

Make rs80359306(A;A)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32333284

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359306
dbSNP (classic)	rs80359306
ClinGen	rs80359306
ebi	rs80359306
HLI	rs80359306
Exac	rs80359306
Gnomad	rs80359306
Varsome	rs80359306
LitVar	rs80359306
Map	rs80359306
PheGenI	rs80359306
Biobank	rs80359306
1000 genomes	rs80359306
hgdp	rs80359306
ensembl	rs80359306
geneview	rs80359306
scholar	rs80359306
google	rs80359306
pharmgkb	rs80359306
gwascentral	rs80359306
openSNP	rs80359306
23andMe	rs80359306
SNPshot	rs80359306
SNPdbe	rs80359306
MSV3d	rs80359306
GWAS Ctlg	rs80359306

Merged from

Rs397507277, Rs606231398

Max Magnitude

6

rs80359306, also known as c.1813dupA, 2034insA, c.1806_1807insA and p.Gly602_Lys603?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

dbSNP has merged rs80359307 into this SNP, rs80359306, so it may now also represent c.1813delA, which is also pathogenic in ClinVar for breast cancer.

ClinVar
Risk	rs80359306(A;A)
Alt	rs80359306(A;A)
Reference	Rs80359306(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32907428dupA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031343.14, RCV000043897.7, RCV000131453.3, RCV000160269.3,