Variant (rsID / SNP)
rs80357123
rs80357123 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,209,095. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:41209095
- Cytoband
- 17q21.31
- HGVS
- NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)
- Allele change
- Silent
Associated conditions / phenotypes
Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Breast neoplasm|Pancreatic cancer, susceptibility to, 4|Fanconi anemia, complementation group S|Familial cancer of breast|Breast-ovarian cancer, familial, susceptibility to, 1|Familial cancer of breast|Breast and/or ovarian cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.