rs80359279

plus

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

Make rs80359279(-;-)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32332787

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359279
dbSNP (classic)	rs80359279
ClinGen	rs80359279
ebi	rs80359279
HLI	rs80359279
Exac	rs80359279
Gnomad	rs80359279
Varsome	rs80359279
LitVar	rs80359279
Map	rs80359279
PheGenI	rs80359279
Biobank	rs80359279
1000 genomes	rs80359279
hgdp	rs80359279
ensembl	rs80359279
geneview	rs80359279
scholar	rs80359279
google	rs80359279
pharmgkb	rs80359279
gwascentral	rs80359279
openSNP	rs80359279
23andMe	rs80359279
SNPshot	rs80359279
SNPdbe	rs80359279
MSV3d	rs80359279
GWAS Ctlg	rs80359279

Status

Merged into rs80359277

Max Magnitude

6

rs80359279, also known as 1537del4, c.1309_1312delAAAG and p.Lys437_Asp438?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80359279(AAAG;AAAG)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32906925_32906928delAAGA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031318.12, RCV000043779.6, RCV000131062.3, RCV000203644.2,