rs80358030

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6	BRCA1 variant considered pathogenic for breast cancer
(G;G)	0	common in clinvar
(G;T)	6	BRCA1 variant considered pathogenic for breast cancer

Make rs80358030(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43099774

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80358030
dbSNP (classic)	rs80358030
ClinGen	rs80358030
ebi	rs80358030
HLI	rs80358030
Exac	rs80358030
Gnomad	rs80358030
Varsome	rs80358030
LitVar	rs80358030
Map	rs80358030
PheGenI	rs80358030
Biobank	rs80358030
1000 genomes	rs80358030
hgdp	rs80358030
ensembl	rs80358030
geneview	rs80358030
scholar	rs80358030
google	rs80358030
pharmgkb	rs80358030
gwascentral	rs80358030
openSNP	rs80358030
23andMe	rs80358030
SNPshot	rs80358030
SNPdbe	rs80358030
MSV3d	rs80358030
GWAS Ctlg	rs80358030

Max Magnitude

6

rs80358030, known as c.547+1G>A and also c.547+1G>T, represents a rare variant in the BRCA1 gene.

Both minor alleles are considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358030(A;A) rs80358030(T;T)
Alt	rs80358030(A;A) rs80358030(T;T)
Reference	Rs80358030(G;G)
Significance	Other
Disease	Familial cancer of breast Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41251791C>A; NC_000017.10:g.41251791C>T
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000049008.4, RCV000112730.1, RCV000212159.1, RCV000216456.1, RCV000112729.1,