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Variant (rsID / SNP)

rs570022823

BARD1

rs570022823 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BARD1. Location: chromosome 2, position 215,645,850. 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
2:215645850
Cytoband
2q35
HGVS
NM_000465.4(BARD1):c.748T>G (p.Ser250Ala)
Allele change
Silent

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial cancer of breast

Public references

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