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Variant (rsID / SNP)

rs781260818

BRCA1

rs781260818 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,234,463. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BRCA1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:41234463
Cytoband
17q21.31
HGVS
NM_007294.4(BRCA1):c.4315C>T (p.Leu1439Phe)
Allele change
Silent

Associated conditions / phenotypes

Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome

Public references

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