Variant (rsID / SNP)
rs786201784
rs786201784 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,244,536. Clinical significance in the table: Likely benign.
Reference-table entries
BRCA1Likely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:41244536
- Cytoband
- 17q21.31
- HGVS
- NM_007294.4(BRCA1):c.3012G>A (p.Glu1004_Glu1005=)
- Allele change
- Silent
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
