ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2985_2988del (p.Leu995_His996insTer)

dbSNP: rs1060501600
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472398 SCV000546844 pathogenic Ataxia-telangiectasia syndrome 2023-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His996*) 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 variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 407557). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003476059 SCV004212265 likely pathogenic Familial cancer of breast 2022-05-25 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003476059 SCV004930600 pathogenic Familial cancer of breast 2024-01-18 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.
Ambry Genetics RCV004022647 SCV005036878 pathogenic Hereditary cancer-predisposing syndrome 2024-01-08 criteria provided, single submitter clinical testing The c.2985_2988delTCAT pathogenic mutation, located in coding exon 19 of the ATM gene, results from a deletion of 4 nucleotides at nucleotide positions 2985 to 2988, causing a translational frameshift with a predicted alternate stop codon (p.H996*). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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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