Variant (rsID / SNP)

rs397509314

rs397509314 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,246,805. Clinical significance in the table: Pathogenic.

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Reference-table entries

BRCA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 17:41246805
Cytoband: 17q21.31
HGVS: NM_007294.4(BRCA1):c.742dup (p.Thr248fs)

Associated conditions / phenotypes

Familial cancer of breast|Breast-ovarian cancer, familial, susceptibility to, 1

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.