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Variant (rsID / SNP)

rs80358023

BRCA1

rs80358023 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,222,942. 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
17:41222942
Cytoband
17q21.31
HGVS
NM_007294.4(BRCA1):c.4986+3G>C
Allele change
Silent

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.