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rs80359593

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TTAAA) 6 BRCA2 variant considered pathogenic for breast cancer
(ATTAA;ATTAA) 0 common in clinvar
(TTAAA;TTAAA) 0 common in clinvar


Make rs80359593(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340801
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359593
ebirs80359593
HLIrs80359593
Exacrs80359593
Varsomers80359593
Maprs80359593
PheGenIrs80359593
hapmaprs80359593
1000 genomesrs80359593
hgdprs80359593
ensemblrs80359593
gopubmedrs80359593
geneviewrs80359593
scholarrs80359593
googlers80359593
pharmgkbrs80359593
gwascentralrs80359593
openSNPrs80359593
23andMers80359593
23andMe allrs80359593
SNP Nexus

SNPshotrs80359593
SNPdbers80359593
MSV3drs80359593
GWAS Ctlgrs80359593
Max Magnitude6
rs80359593, also known as 6674del5, c.6446_6450delTTAAA and p.Ile2149_Lys2150?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359593(;)
Alt rs80359593(;)
Reference rs80359593(ATTAA;ATTAA)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32914938_32914942delTTAAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044955.3, RCV000077376.3, RCV000162931.1,