Variant (rsID / SNP)

rs786202500

rs786202500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BARD1. Location: chromosome 2, position 215,646,102. Clinical significance in the table: Pathogenic.

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Reference-table entries

BARD1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:215646102
Cytoband: 2q35
HGVS: NM_000465.4(BARD1):c.496C>T (p.Gln166Ter)
Allele change: Silent

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|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.