ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6490G>T (p.Glu2164Ter)

dbSNP: rs1317619286
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523585 SCV000619204 likely pathogenic not provided 2017-07-12 criteria provided, single submitter clinical testing This variant is denoted ATM c.6490G>T at the cDNA level and p.Glu2164Ter (E2164X) at the proteinlevel. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon(GAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is consideredlikely pathogenic
Labcorp Genetics (formerly Invitae), Labcorp RCV001857980 SCV002221608 pathogenic Ataxia-telangiectasia syndrome 2023-04-11 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: 450602). This premature translational stop signal has been observed in individual(s) with ovarian cancer and variant ataxia telangiectasia (PMID: 30322717, 30549301). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu2164*) 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 RCV003352903 SCV004053902 pathogenic Hereditary cancer-predisposing syndrome 2023-06-20 criteria provided, single submitter clinical testing The p.E2164* pathogenic mutation (also known as c.6490G>T), located in coding exon 44 of the ATM gene, results from a G to T substitution at nucleotide position 6490. This changes the amino acid from a glutamic acid to a stop codon within coding exon 44. 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.

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