Variant (rsID / SNP)

rs80358809

rs80358809 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,900,700. Clinical significance in the table: Pathogenic.

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Reference-table entries

BRCA2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:32900700
Cytoband: 13q13.1
HGVS: NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)
Allele change: Nonsense_W194X

Associated conditions / phenotypes

Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 2|Breast and/or ovarian cancer

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.