ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7508_7521delinsG (p.Val2503fs)

dbSNP: rs879255331
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000661436 SCV000783713 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneKor MSA RCV000238954 SCV000296830 pathogenic Familial cancer of breast 2020-01-01 criteria provided, single submitter clinical testing This sequence change deletes 13 nucleotides and inserts one nucleotides into exon 15 of the BRCA2 mRNA (c.7508_7521delinsG ) causing a frameshift after codon 2503 and the creation of a premature translation stop signal 17 amino acid residues later p.(Val2503Glyfs) This is expected to result in an absent or disrupted protein product. Truncating variants in BRCA2 are known to be pathogenic. This mutation has been described in the mutation database ClinVar (Variation ID: 252447).

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