Variant (rsID / SNP)
rs80358189
rs80358189 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,226,539. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:41226539
- Cytoband
- 17q21.31
- HGVS
- NM_007294.4(BRCA1):c.4485-1G>A
- Allele change
- Silent
Associated conditions / phenotypes
Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Pancreatic cancer, susceptibility to, 4|Fanconi anemia, complementation group S|Familial cancer of breast|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Malignant tumor of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.