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Variant (rsID / SNP)

rs80357227

BRCA1

rs80357227 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,209,130. 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
17:41209130
Cytoband
17q21.31
HGVS
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly)
Allele change
Silent

Associated conditions / phenotypes

Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Malignant tumor of breast|Breast and/or ovarian cancer|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.