Variant (rsID / SNP)

rs397509330

rs397509330 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,246,698. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

BRCA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:41246698
Cytoband: 17q21.31
HGVS: NM_007294.4(BRCA1):c.850C>T (p.Gln284Ter)
Allele change: Silent

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.