Variant (rsID / SNP)

rs397509243

rs397509243 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,209,103. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

BRCA1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:41209103
Cytoband: 17q21.31
HGVS: NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)
Allele change: Silent

Associated conditions / phenotypes

Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer 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.