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rs80359488

From SNPedia

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


Make rs80359488(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339512
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359488
ebirs80359488
HLIrs80359488
Exacrs80359488
Varsomers80359488
Maprs80359488
PheGenIrs80359488
hapmaprs80359488
1000 genomesrs80359488
hgdprs80359488
ensemblrs80359488
gopubmedrs80359488
geneviewrs80359488
scholarrs80359488
googlers80359488
pharmgkbrs80359488
gwascentralrs80359488
openSNPrs80359488
23andMers80359488
23andMe allrs80359488
SNP Nexus

SNPshotrs80359488
SNPdbers80359488
MSV3drs80359488
GWAS Ctlgrs80359488
Max Magnitude6
rs80359488, also known as 5385del5, c.5157_5161delTTCAA and p.Asn1719_Asn1721?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359488(;)
Alt rs80359488(;)
Reference rs80359488(AATTC;AATTC)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32913649_32913653delTTCAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044568.2, RCV000113389.1,