rs80359508

plus

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

Make rs80359508(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339706

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359508
dbSNP (classic)	rs80359508
ClinGen	rs80359508
ebi	rs80359508
HLI	rs80359508
Exac	rs80359508
Gnomad	rs80359508
Varsome	rs80359508
LitVar	rs80359508
Map	rs80359508
PheGenI	rs80359508
Biobank	rs80359508
1000 genomes	rs80359508
hgdp	rs80359508
ensembl	rs80359508
geneview	rs80359508
scholar	rs80359508
google	rs80359508
pharmgkb	rs80359508
gwascentral	rs80359508
openSNP	rs80359508
23andMe	rs80359508
SNPshot	rs80359508
SNPdbe	rs80359508
MSV3d	rs80359508
GWAS Ctlg	rs80359508

Max Magnitude

6

rs80359508, also known as 5579insA, c.5351_5352insA, c.5350_5351dupAA and p.Asn1784?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359508(A;A) rs80359508(AA;AA)
Alt	rs80359508(A;A) rs80359508(AA;AA)
Reference	Rs80359508(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32913842_32913843dupAA; NC_000013.10:g.32913843dupA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000257057.2, RCV000031541.8, RCV000044642.5, RCV000131977.4, RCV000195402.3,