rs80359448

plus

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

Make rs80359448(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338804

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359448
dbSNP (classic)	rs80359448
ClinGen	rs80359448
ebi	rs80359448
HLI	rs80359448
Exac	rs80359448
Gnomad	rs80359448
Varsome	rs80359448
LitVar	rs80359448
Map	rs80359448
PheGenI	rs80359448
Biobank	rs80359448
1000 genomes	rs80359448
hgdp	rs80359448
ensembl	rs80359448
geneview	rs80359448
scholar	rs80359448
google	rs80359448
pharmgkb	rs80359448
gwascentral	rs80359448
openSNP	rs80359448
23andMe	rs80359448
SNPshot	rs80359448
SNPdbe	rs80359448
MSV3d	rs80359448
GWAS Ctlg	rs80359448

Max Magnitude

6

rs80359448, also known as 4677delA, c.4449_4449delA and p.Thr1483=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359448(-;-)
Alt	rs80359448(-;-)
Reference	Rs80359448(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32912941delA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031485.6, RCV000044416.4, RCV000163360.2, RCV000412671.1,