rs80359301

plus

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

Make rs80359301(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32333232

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359301
dbSNP (classic)	rs80359301
ClinGen	rs80359301
ebi	rs80359301
HLI	rs80359301
Exac	rs80359301
Gnomad	rs80359301
Varsome	rs80359301
LitVar	rs80359301
Map	rs80359301
PheGenI	rs80359301
Biobank	rs80359301
1000 genomes	rs80359301
hgdp	rs80359301
ensembl	rs80359301
geneview	rs80359301
scholar	rs80359301
google	rs80359301
pharmgkb	rs80359301
gwascentral	rs80359301
openSNP	rs80359301
23andMe	rs80359301
SNPshot	rs80359301
SNPdbe	rs80359301
MSV3d	rs80359301
GWAS Ctlg	rs80359301

Max Magnitude

6

rs80359301, also known as c.1754delA, 1982delA, c.1754_1754delA and p.Lys585Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

rs80359301 can also represent c.1754dupA, which is also considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359301(-;-)
Alt	rs80359301(-;-)
Reference	Rs80359301(A;A)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 not provided Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32907369delA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000043873.5, RCV000077262.5, RCV000212214.1, RCV000463045.1,