Variant (rsID / SNP)

rs398122687

rs398122687 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,226,530. Clinical significance in the table: Pathogenic.

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Reference-table entries

BRCA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 17:41226530
Cytoband: 17q21.31
HGVS: NM_007294.4(BRCA1):c.4493del (p.Pro1498fs)

Associated conditions / phenotypes

Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Malignant tumor of breast

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.