ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1454delinsTGTATT (p.Lys485fs)

dbSNP: rs2072413505
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001240214 SCV001413140 pathogenic Hereditary breast ovarian cancer syndrome 2023-02-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys485Metfs*26) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584).
Ambry Genetics RCV002393615 SCV002696686 pathogenic Hereditary cancer-predisposing syndrome 2022-01-23 criteria provided, single submitter clinical testing The c.1454delAinsTGTATT pathogenic mutation, located in coding exon 9 of the BRCA2 gene, results from the deletion of one nucleotide and insertion of 6 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.K485Mfs*26). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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