Variant (rsID / SNP)
rs80359022
rs80359022 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,936,812. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
BRCA2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:32936812
- Cytoband
- 13q13.1
- HGVS
- NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro)
- Allele change
- Missense_L2653P
Associated conditions / phenotypes
Breast-ovarian cancer, familial, susceptibility to, 2|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome|BRCA2-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.