rs80359444

plus

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

Make rs80359444(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338753

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359444
dbSNP (classic)	rs80359444
ClinGen	rs80359444
ebi	rs80359444
HLI	rs80359444
Exac	rs80359444
Gnomad	rs80359444
Varsome	rs80359444
LitVar	rs80359444
Map	rs80359444
PheGenI	rs80359444
Biobank	rs80359444
1000 genomes	rs80359444
hgdp	rs80359444
ensembl	rs80359444
geneview	rs80359444
scholar	rs80359444
google	rs80359444
pharmgkb	rs80359444
gwascentral	rs80359444
openSNP	rs80359444
23andMe	rs80359444
SNPshot	rs80359444
SNPdbe	rs80359444
MSV3d	rs80359444
GWAS Ctlg	rs80359444

Max Magnitude

6

rs80359444, also known as 4626del5, c.4398_4402delACATT and p.Leu1466_Ser1468?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359444(-;-) Rs80359444(ATTAC;ATTAC)
Alt	rs80359444(-;-) Rs80359444(ATTAC;ATTAC)
Reference	Rs80359444(ACATT;ACATT)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32912890_32912894delACATT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044404.5, RCV000083104.5, RCV000131078.3, RCV000160288.3,