Variant (rsID / SNP)

rs863224673

rs863224673 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BARD1. Location: chromosome 2, position 215,593,406. Clinical significance in the table: Likely benign.

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Reference-table entries

BARD1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:215593406
Cytoband: 2q35
HGVS: NM_000465.4(BARD1):c.2328C>T (p.Asp776=)
Allele change: Silent

Associated conditions / phenotypes

Familial cancer of breast|Hereditary cancer-predisposing 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.