rs80359543

plus

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

Make rs80359543(-;-)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32340203

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359543
dbSNP (classic)	rs80359543
ClinGen	rs80359543
ebi	rs80359543
HLI	rs80359543
Exac	rs80359543
Gnomad	rs80359543
Varsome	rs80359543
LitVar	rs80359543
Map	rs80359543
PheGenI	rs80359543
Biobank	rs80359543
1000 genomes	rs80359543
hgdp	rs80359543
ensembl	rs80359543
geneview	rs80359543
scholar	rs80359543
google	rs80359543
pharmgkb	rs80359543
gwascentral	rs80359543
openSNP	rs80359543
23andMe	rs80359543
SNPshot	rs80359543
SNPdbe	rs80359543
MSV3d	rs80359543
GWAS Ctlg	rs80359543

Merged from

Rs80359544

Max Magnitude

6

rs80359543, also known as 6076del4, c.5848_5851delGTTA and p.Val1950_Ser1951?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359543(-;-) rs80359543(AGTT;AGTT)
Alt	rs80359543(-;-) rs80359543(AGTT;AGTT)
Reference	Rs80359543(GTTA;GTTA)
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.32914343_32914346delAGTT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031582.11, RCV000044773.4, RCV000131116.3, RCV000254645.2,