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Variant (rsID / SNP)

rs78951648

BRCA1

rs78951648 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,242,980. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BRCA1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:41242980
Cytoband
17q21.31
HGVS
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn)
Allele change
Silent

Associated conditions / phenotypes

Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Breast neoplasm|Hereditary breast ovarian cancer syndrome|Familial cancer of breast

Public references

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