Variant (rsID / SNP)
rs786203411
rs786203411 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,972,719. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
BRCA2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:32972719
- Cytoband
- 13q13.1
- HGVS
- NM_000059.4(BRCA2):c.10069A>G (p.Thr3357Ala)
- Allele change
- Missense_T3357A
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
