Variant (rsID / SNP)

rs864622239

rs864622239 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BARD1. Location: chromosome 2, position 215,595,234. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

BARD1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:215595234
Cytoband: 2q35
HGVS: NM_000465.4(BARD1):c.1904-2A>T
Allele change: Silent

Associated conditions / phenotypes

Familial cancer of breast

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.