Variant (rsID / SNP)
rs80358814
rs80358814 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,914,349. Clinical significance in the table: Pathogenic.
Reference-table entries
BRCA2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:32914349
- Cytoband
- 13q13.1
- HGVS
- NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)
- Allele change
- Nonsense_E1953X
Associated conditions / phenotypes
Breast-ovarian cancer, familial, susceptibility to, 2|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|BRCA2-Related Disorders|9 conditions|Breast and/or ovarian cancer|Malignant tumor of breast|Medulloblastoma|Familial cancer of breast|Wilms tumor 1|Malignant tumor of prostate
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.