Variant (rsID / SNP)

rs169547

rs169547 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,929,387. Clinical significance in the table: Benign.

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Reference-table entries

BRCA2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:32929387
Cytoband: 13q13.1
HGVS: NM_000059.4(BRCA2):c.7397= (p.Val2466=)
Allele change: Missense_V2466A

Associated conditions / phenotypes

Breast-ovarian cancer, familial, susceptibility to, 2|Familial cancer of breast|Hereditary breast ovarian cancer syndrome

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.