ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7658del (p.Asn2553fs)

dbSNP: rs2072708512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001218284 SCV001390158 pathogenic Hereditary breast ovarian cancer syndrome 2024-11-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn2553Thrfs*95) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 947253). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002393516 SCV002674162 pathogenic Hereditary cancer-predisposing syndrome 2022-10-18 criteria provided, single submitter clinical testing The c.7658delA pathogenic mutation, located in coding exon 15 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 7658, causing a translational frameshift with a predicted alternate stop codon (p.N2553Tfs*95). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
GenomeConnect - Invitae Patient Insights Network RCV003483793 SCV004228568 not provided BRCA2-related disorder no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 06-19-2019 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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