ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter)

gnomAD frequency: 0.00004  dbSNP: rs984874083
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516990 SCV000614117 likely pathogenic not provided 2016-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561055 SCV000666411 pathogenic Hereditary cancer-predisposing syndrome 2024-05-24 criteria provided, single submitter clinical testing The p.K339* pathogenic mutation (also known as c.1015A>T), located in coding exon 8 of the MRE11A gene, results from an A to T substitution at nucleotide position 1015. This changes the amino acid from a lysine to a stop codon within coding exon 8. 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.
Revvity Omics, Revvity RCV001783013 SCV002017546 pathogenic Ataxia-telangiectasia-like disorder 1 2019-02-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002527494 SCV003238198 pathogenic Ataxia-telangiectasia-like disorder 2024-09-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys339*) in the MRE11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341). This variant is present in population databases (no rsID available, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with breast cancer or prostate cancer (PMID: 32427313, 32832836). ClinVar contains an entry for this variant (Variation ID: 447736). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001783013 SCV004193790 likely pathogenic Ataxia-telangiectasia-like disorder 1 2023-09-26 criteria provided, single submitter clinical testing
GeneDx RCV000516990 SCV005903030 likely pathogenic not provided 2024-09-25 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32832836, 32427313, 29922827)

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