ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7767del (p.Lys2589fs)

dbSNP: rs1057517025
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411122 SCV000486620 likely pathogenic Ataxia-telangiectasia syndrome 2016-07-07 criteria provided, single submitter clinical testing
Invitae RCV000411122 SCV000748917 pathogenic Ataxia-telangiectasia syndrome 2023-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys2589Asnfs*17) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with prostate cancer (PMID: 27433846). ClinVar contains an entry for this variant (Variation ID: 371123). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002411274 SCV002672202 pathogenic Hereditary cancer-predisposing syndrome 2023-10-27 criteria provided, single submitter clinical testing The c.7767delA pathogenic mutation, located in coding exon 51 of the ATM gene, results from a deletion of one nucleotide at position 7767 causing a translational frameshift with a predicted alternate stop codon (p.K2589fs*17). This mutation has been reported in a homozygous state in a 14 year-old Colombian patient with classic ataxia-telangiectasia syndrome (Ruiz-Botero F et al. Rev Chil Pediatr, 2017;88:524-528). In addition to the clinical data presented in the literature, 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. RCV004022143 SCV004933533 pathogenic Familial cancer of breast 2024-01-31 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Natera, Inc. RCV000411122 SCV001462592 pathogenic Ataxia-telangiectasia syndrome 2020-09-16 no assertion criteria provided clinical testing

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