ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter)

gnomAD frequency: 0.00001  dbSNP: rs1131691162
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000493110 SCV000581464 pathogenic Hereditary cancer-predisposing syndrome 2021-12-28 criteria provided, single submitter clinical testing The p.W2344* pathogenic mutation (also known as c.7032G>A), located in coding exon 47 of the ATM gene, results from a G to A substitution at nucleotide position 7032. This changes the amino acid from a tryptophan to a stop codon within coding exon 47. 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.
Invitae RCV000628129 SCV000749022 pathogenic Ataxia-telangiectasia syndrome 2023-10-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp2344*) 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 present in population databases (no rsID available, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with ATM-related disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 429080). For these reasons, this variant has been classified as Pathogenic.
Sema4, Sema4 RCV000493110 SCV002536920 likely pathogenic Hereditary cancer-predisposing syndrome 2021-04-29 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002496891 SCV002811451 likely pathogenic Familial cancer of breast; Ataxia-telangiectasia syndrome 2021-07-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV003470609 SCV004207042 pathogenic Familial cancer of breast 2023-12-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000493110 SCV004361825 pathogenic Hereditary cancer-predisposing syndrome 2021-08-30 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 48 of the ATM gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 3/251086 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of ATM function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Myriad Genetics, Inc. RCV003470609 SCV004930369 pathogenic Familial cancer of breast 2024-01-30 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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