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Variant (rsID / SNP)

rs3738888

BARD1

rs3738888 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BARD1. Location: chromosome 2, position 215,595,164. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BARD1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:215595164
Cytoband
2q35
HGVS
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys)
Allele change
Silent

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial cancer of breast|Triple-Negative Breast Cancer Finding|Malignant tumor of breast|Hereditary breast ovarian cancer syndrome

Public references

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