rs80359449

plus

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

Make rs80359449(-;-)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32338809

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359449
dbSNP (classic)	rs80359449
ClinGen	rs80359449
ebi	rs80359449
HLI	rs80359449
Exac	rs80359449
Gnomad	rs80359449
Varsome	rs80359449
LitVar	rs80359449
Map	rs80359449
PheGenI	rs80359449
Biobank	rs80359449
1000 genomes	rs80359449
hgdp	rs80359449
ensembl	rs80359449
geneview	rs80359449
scholar	rs80359449
google	rs80359449
pharmgkb	rs80359449
gwascentral	rs80359449
openSNP	rs80359449
23andMe	rs80359449
SNPshot	rs80359449
SNPdbe	rs80359449
MSV3d	rs80359449
GWAS Ctlg	rs80359449

Merged from

Rs80359450

Max Magnitude

6

rs80359449, also known as c.4456_4459delGTTA, 4682del4, c.4454_4457delTAGT and p.Ile1485_Val1486?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359449(-;-) rs80359449(GTTA;GTTA)
Alt	rs80359449(-;-) rs80359449(GTTA;GTTA)
Reference	Rs80359449(TAGT;TAGT)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32912948_32912951delGTTA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044417.5, RCV000083106.7, RCV000212235.2, RCV000222405.1,