rs80359312

plus

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

Make rs80359312(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32333320

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359312
dbSNP (classic)	rs80359312
ClinGen	rs80359312
ebi	rs80359312
HLI	rs80359312
Exac	rs80359312
Gnomad	rs80359312
Varsome	rs80359312
LitVar	rs80359312
Map	rs80359312
PheGenI	rs80359312
Biobank	rs80359312
1000 genomes	rs80359312
hgdp	rs80359312
ensembl	rs80359312
geneview	rs80359312
scholar	rs80359312
google	rs80359312
pharmgkb	rs80359312
gwascentral	rs80359312
openSNP	rs80359312
23andMe	rs80359312
SNPshot	rs80359312
SNPdbe	rs80359312
MSV3d	rs80359312
GWAS Ctlg	rs80359312

Max Magnitude

6

rs80359312, also known as 2070insT, c.1842_1843insT and p.Ile614_Asn615?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359312(T;T)
Alt	rs80359312(T;T)
Reference	Rs80359312(-;-)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 not provided
Reversed	0
HGVS	NC_000013.10:g.32907457dupT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000043907.2, RCV000112985.3, RCV000480390.1,