ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6405_6408del (p.Asn2135fs)

dbSNP: rs398122556
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Total submissions: 5
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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) RCV000076965 SCV000301034 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001543459 SCV001762041 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362717 SCV002658539 pathogenic Hereditary cancer-predisposing syndrome 2017-03-06 criteria provided, single submitter clinical testing The c.6405_6408delCTTA pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of 4 nucleotides at nucleotide positions 6405 to 6408, causing a translational frameshift with a predicted alternate stop codon (p.N2135Kfs*32). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002513809 SCV003483473 pathogenic Hereditary breast ovarian cancer syndrome 2024-12-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn2135Lysfs*32) 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 premature translational stop signal has been observed in individual(s) with ovarian cancer (PMID: 29797126). ClinVar contains an entry for this variant (Variation ID: 91448). For these reasons, this variant has been classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000076965 SCV000108762 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2009-01-27 no assertion criteria provided clinical testing

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