rs80359338

Merged into

rs80359335

Orientation

plus

Stabilized

plus

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

Make rs80359338(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32336943

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359338
dbSNP (classic)	rs80359338
ClinGen	rs80359338
ebi	rs80359338
HLI	rs80359338
Exac	rs80359338
Gnomad	rs80359338
Varsome	rs80359338
LitVar	rs80359338
Map	rs80359338
PheGenI	rs80359338
Biobank	rs80359338
1000 genomes	rs80359338
hgdp	rs80359338
ensembl	rs80359338
geneview	rs80359338
scholar	rs80359338
google	rs80359338
pharmgkb	rs80359338
gwascentral	rs80359338
openSNP	rs80359338
23andMe	rs80359338
SNPshot	rs80359338
SNPdbe	rs80359338
MSV3d	rs80359338
GWAS Ctlg	rs80359338

Status

Merged into rs80359335

Max Magnitude

6

rs80359338, also known as 2816insA, c.2588_2589insA and p.Asn863?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359338(A;A)
Alt	rs80359338(A;A)
Reference	Rs80359338(;)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32911080dupA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031374.10, RCV000044019.3, RCV000218358.1,