rs80359484

plus

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

Make rs80359484(-;-)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32339484

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359484
dbSNP (classic)	rs80359484
ClinGen	rs80359484
ebi	rs80359484
HLI	rs80359484
Exac	rs80359484
Gnomad	rs80359484
Varsome	rs80359484
LitVar	rs80359484
Map	rs80359484
PheGenI	rs80359484
Biobank	rs80359484
1000 genomes	rs80359484
hgdp	rs80359484
ensembl	rs80359484
geneview	rs80359484
scholar	rs80359484
google	rs80359484
pharmgkb	rs80359484
gwascentral	rs80359484
openSNP	rs80359484
23andMe	rs80359484
SNPshot	rs80359484
SNPdbe	rs80359484
MSV3d	rs80359484
GWAS Ctlg	rs80359484

Merged from

Rs760558178, Rs80359485

Max Magnitude

6

rs80359484, also known as c.5130_5133delTGTA, 5357del4, c.5129_5132delATGT and p.Tyr1710_Val1711?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359484(-;-) Rs80359484(TATG;TATG) rs80359484(TGTA;TGTA)
Alt	rs80359484(-;-) Rs80359484(TATG;TATG) rs80359484(TGTA;TGTA)
Reference	Rs80359484(ATGT;ATGT)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome Breast-ovarian cancer not provided
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 not provided
Reversed	0
HGVS	NC_000013.10:g.32913622_32913625delTGTA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044563.3, RCV000077345.7, RCV000131075.3, RCV000210164.1, RCV000215028.2,