Variant (rsID / SNP)
rs397508979
rs397508979 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,244,991. Clinical significance in the table: Pathogenic.
Reference-table entries
BRCA1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Insertion
- Chromosome / position
- 17:41244991
- Cytoband
- 17q21.31
- HGVS
- NM_007294.4(BRCA1):c.2556_2557insTTCACTTTTC (p.Asp853fs)
Associated conditions / phenotypes
Breast neoplasm
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.