ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6027C>G (p.Tyr2009Ter)

dbSNP: rs1555113567
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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 RCV000567406 SCV000668041 pathogenic Hereditary cancer-predisposing syndrome 2018-05-01 criteria provided, single submitter clinical testing The p.Y2009* pathogenic mutation (also known as c.6027C>G), located in coding exon 40 of the ATM gene, results from a C to G substitution at nucleotide position 6027. This changes the amino acid from a tyrosine to a stop codon within coding exon 40. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001385545 SCV001585434 pathogenic Ataxia-telangiectasia syndrome 2022-12-20 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: 482675). 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.Tyr2009*) 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).
3billion RCV001385545 SCV003841836 pathogenic Ataxia-telangiectasia syndrome 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic without evidence for the classification (ClinVar ID: VCV000482675 / PMID: 30067863). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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