ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4335_4338del (p.Phe1445fs)

dbSNP: rs2135762355
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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 RCV001975157 SCV002243339 pathogenic Ataxia-telangiectasia syndrome 2021-02-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ATM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe1445Leufs*5) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872).
Ambry Genetics RCV002331535 SCV002633125 pathogenic Hereditary cancer-predisposing syndrome 2019-10-04 criteria provided, single submitter clinical testing The c.4335_4338delTGTT pathogenic mutation, located in coding exon 28 of the ATM gene, results from a deletion of 4 nucleotides at nucleotide positions 4335 to 4338, causing a translational frameshift with a predicted alternate stop codon (p.F1445Lfs*5). 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.
Myriad Genetics, Inc. RCV004044395 SCV004933707 pathogenic Familial cancer of breast 2024-01-24 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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