Variant (rsID / SNP)
rs876660287
rs876660287 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,972,367. Clinical significance in the table: Pathogenic.
Reference-table entries
BRCA2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Insertion
- Chromosome / position
- 13:32972367
- Cytoband
- 13q13.1
- HGVS
- NM_000059.4(BRCA2):c.9717_9718insAT (p.Val3240fs)
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.