Variant (rsID / SNP)
rs28897672
rs28897672 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,258,504. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:41258504
- Cytoband
- 17q21.31
- HGVS
- NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
- Allele change
- Silent
Associated conditions / phenotypes
Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Breast neoplasm|Breast carcinoma|Pancreatic cancer, susceptibility to, 4|Breast-ovarian cancer, familial, susceptibility to, 1|Fanconi anemia, complementation group S|Familial cancer of breast|Neoplasm of ovary|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.