ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)

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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 RCV003297591 SCV004007296 pathogenic Hereditary cancer-predisposing syndrome 2023-05-12 criteria provided, single submitter clinical testing The p.Y2281* pathogenic mutation (also known as c.6843C>A), located in coding exon 46 of the ATM gene, results from a C to A substitution at nucleotide position 6843. This changes the amino acid from a tyrosine to a stop codon within coding exon 46. 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.
Myriad Genetics, Inc. RCV003455796 SCV004189556 pathogenic Familial cancer of breast 2023-11-07 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.
Baylor Genetics RCV003455796 SCV004212141 likely pathogenic Familial cancer of breast 2022-12-26 criteria provided, single submitter clinical testing

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