rs80359440

Merged into

rs80359439

Orientation

plus

Stabilized

plus

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

Make rs80359440(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338639

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359440
dbSNP (classic)	rs80359440
ClinGen	rs80359440
ebi	rs80359440
HLI	rs80359440
Exac	rs80359440
Gnomad	rs80359440
Varsome	rs80359440
LitVar	rs80359440
Map	rs80359440
PheGenI	rs80359440
Biobank	rs80359440
1000 genomes	rs80359440
hgdp	rs80359440
ensembl	rs80359440
geneview	rs80359440
scholar	rs80359440
google	rs80359440
pharmgkb	rs80359440
gwascentral	rs80359440
openSNP	rs80359440
23andMe	rs80359440
SNPshot	rs80359440
SNPdbe	rs80359440
MSV3d	rs80359440
GWAS Ctlg	rs80359440

Status

Merged into rs80359439

Max Magnitude

6

rs80359440, also known as 4512insT, c.4284_4285insT and p.Phe1428_Gln1429?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359440(T;T)
Alt	rs80359440(T;T)
Reference	Rs80359440(;)
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.32912776dupT
CLNSRC	Breast Cancer Information Core (BRCA2) Inc.
CLNACC	RCV000031473.10, RCV000044387.5, RCV000130074.4, RCV000160287.2,