Variant (rsID / SNP)

rs376257217

rs376257217 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,913,811. Clinical significance in the table: Likely benign.

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Reference-table entries

BRCA2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:32913811
Cytoband: 13q13.1
HGVS: NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=)
Allele change: Synonymous_E1773E

Associated conditions / phenotypes

Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Fanconi anemia|Breast-ovarian cancer, familial, susceptibility to, 2|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.