rs80359480

plus

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

Make rs80359480(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339428

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359480
dbSNP (classic)	rs80359480
ClinGen	rs80359480
ebi	rs80359480
HLI	rs80359480
Exac	rs80359480
Gnomad	rs80359480
Varsome	rs80359480
LitVar	rs80359480
Map	rs80359480
PheGenI	rs80359480
Biobank	rs80359480
1000 genomes	rs80359480
hgdp	rs80359480
ensembl	rs80359480
geneview	rs80359480
scholar	rs80359480
google	rs80359480
pharmgkb	rs80359480
gwascentral	rs80359480
openSNP	rs80359480
23andMe	rs80359480
SNPshot	rs80359480
SNPdbe	rs80359480
MSV3d	rs80359480
GWAS Ctlg	rs80359480

Merged from

Rs766647221

Max Magnitude

6

rs80359480, also known as 5301insA, c.5073_5074insA and p.Lys1691_Trp1692?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359480(A;A)
Alt	rs80359480(A;A)
Reference	Rs80359480(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified
Reversed	0
HGVS	NC_000013.10:g.32913565dupA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031524.9, RCV000044550.8, RCV000130743.4, RCV000160294.3, RCV000238830.1,