Variant (rsID / SNP)

rs80359414

rs80359414 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,912,393. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BRCA2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: Microsatellite
Chromosome / position: 13:32912393
Cytoband: 13q13.1
HGVS: NM_000059.4(BRCA2):c.3901ACT[1] (p.Thr1302del)

Associated conditions / phenotypes

Breast-ovarian cancer, familial, susceptibility to, 2

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.