ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4611_4611+9del

dbSNP: rs780969040
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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 RCV001987037 SCV002282347 likely pathogenic Ataxia-telangiectasia syndrome 2022-09-12 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 30 (c.4611_4611+9del) of the ATM gene. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs780969040, gnomAD 0.0009%). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Studies have shown that this variant results in skipping of exon 30 and introduces a premature termination codon (PMID: 8845835). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 1494164). This variant is also known as 4611delG+9. This variant has been observed in individual(s) with ataxia-telangiectasia (PMID: 9872980).
Myriad Genetics, Inc. RCV004045436 SCV004930771 likely pathogenic Familial cancer of breast 2024-01-24 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

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