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Variant (rsID / SNP)

rs397509173

BRCA1

rs397509173 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,256,137. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

BRCA1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:41256137
Cytoband
17q21.31
HGVS
NM_007294.4(BRCA1):c.441+2T>A
Allele change
Silent

Associated conditions / phenotypes

Breast neoplasm|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.