rs80357989

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;TCATTAC)	6	BRCA1 variant considered pathogenic for breast cancer

Make rs80357989(TCATTAC;TCATTAC)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094680

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357989
ClinGen	rs80357989
ebi	rs80357989
HLI	rs80357989
Exac	rs80357989
Varsome	rs80357989
Map	rs80357989
PheGenI	rs80357989
hapmap	rs80357989
1000 genomes	rs80357989
hgdp	rs80357989
ensembl	rs80357989
gopubmed	rs80357989
geneview	rs80357989
scholar	rs80357989
google	rs80357989
pharmgkb	rs80357989
gwascentral	rs80357989
openSNP	rs80357989
23andMe	rs80357989
23andMe all	rs80357989
SNP Nexus
SNPshot	rs80357989
SNPdbe	rs80357989
MSV3d	rs80357989
GWAS Ctlg	rs80357989

Max Magnitude

6

rs80357989, also known as 969ins7, c.850_851insTCATTAC and p.Gln284?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357989(TCATTAC;TCATTAC)
Alt	rs80357989(TCATTAC;TCATTAC)
Reference	Rs80357989(-;-)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome Rhabdomyosarcoma
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Rhabdomyosarcoma
Reversed	1
HGVS	NC_000017.10:g.41246698_41246704dupGTAATGA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000049169.2, RCV000112803.2, RCV000165711.1, RCV000414853.1,