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rs80359675

From SNPedia

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


Make rs80359675(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32331008
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359675
ebirs80359675
HLIrs80359675
Exacrs80359675
Varsomers80359675
Maprs80359675
PheGenIrs80359675
hapmaprs80359675
1000 genomesrs80359675
hgdprs80359675
ensemblrs80359675
gopubmedrs80359675
geneviewrs80359675
scholarrs80359675
googlers80359675
pharmgkbrs80359675
gwascentralrs80359675
openSNPrs80359675
23andMers80359675
23andMe allrs80359675
SNP Nexus

SNPshotrs80359675
SNPdbers80359675
MSV3drs80359675
GWAS Ctlgrs80359675
Max Magnitude6
rs80359675, also known as 999del5, c.771_775delTCAAA and p.Asn257_Arg259?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.rs80359675, aka 999del5, represents a 5bp deletion in the BRCA2 gene on chromosome 13. An alternative rs# for this same deletion is rs80359671. The BRCA2 999del5 deletion has been associated with significantly increased risk for breast cancer as well as some other cancers, at least in certain populations. For more information, see OMIM 600185.0010.

23andMe appears to have renamed this SNP as either i4000466, i5009236, i5053894 and/or i5009235. For the sake of 23andMe customers, it would be great if someone with insider knowledge of what exactly each of these represents would contact us.


ClinVar
Risk rs80359675(;)
Alt rs80359675(;)
Reference rs80359675(CAAAT;CAAAT)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32905145_32905149delTCAAA
CLNSRC Breast Cancer Information Core (BRCA2) OMIM Allelic Variant
CLNACC RCV000009913.9, RCV000056288.6, RCV000131848.2, RCV000195405.1, RCV000212208.2,