ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter)

dbSNP: rs1555105786
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667940 SCV000792469 likely pathogenic Ataxia-telangiectasia syndrome 2017-06-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667940 SCV001588743 pathogenic Ataxia-telangiectasia syndrome 2021-01-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 552644). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr1763*) 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 RCV002343417 SCV002642055 pathogenic Hereditary cancer-predisposing syndrome 2020-09-08 criteria provided, single submitter clinical testing The c.5288_5289insGA pathogenic mutation, located in coding exon 34 of the ATM gene, results from an insertion of two nucleotides at position 5288, causing a translational frameshift with a predicted alternate stop codon (p.Y1763*). 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.
Baylor Genetics RCV003465480 SCV004209492 pathogenic Familial cancer of breast 2024-01-18 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003465480 SCV004933898 pathogenic Familial cancer of breast 2024-01-25 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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