ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.642del (p.Lys215fs)

dbSNP: rs876660315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219456 SCV000277641 pathogenic Hereditary cancer-predisposing syndrome 2015-08-03 criteria provided, single submitter clinical testing The c.642delC pathogenic mutation, located in coding exon 5 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 642, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Invitae RCV002519729 SCV003235685 pathogenic Ataxia-telangiectasia syndrome 2022-12-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 233295). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys215Argfs*15) 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).
Myriad Genetics, Inc. RCV004020684 SCV004931559 pathogenic Familial cancer of breast 2024-01-09 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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