ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.119_122delTTAA (p.Ile40Asnfs) (rs876659116)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220926 SCV000275194 pathogenic Hereditary cancer-predisposing syndrome 2015-04-22 criteria provided, single submitter clinical testing
GeneDx RCV000413071 SCV000491168 likely pathogenic not provided 2016-05-26 criteria provided, single submitter clinical testing The c.119_122delTTAA variant in the ATM gene, denoted as c.118del4 due to alternative nomenclature, has been reported previously in a single family with a child reported to have ataxia-telangiectasia; however, it is unknown if the affected individual had a second pathogenic variant and no further evidence was provided to indicate the pathogenicity of this variant (Cavaciuti et al., 2005). The c.119_122delTTAA variant causes a frameshift starting with codon Isoleucine 40, changes this amino acid to a Asparagine residue, and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Ile40AsnfsX3. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.119_122delTTAA variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.119_122delTTAA variant is a strong candidate for a pathogenic variant; however, the possibility it may be a rare benign variant cannot be excluded.

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