ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4801dup (p.Ser1601fs)

dbSNP: rs2546942537
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003142460 SCV003806906 likely pathogenic Familial cancer of breast 2023-01-13 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated
Ambry Genetics RCV004673842 SCV005168720 pathogenic Hereditary cancer-predisposing syndrome 2024-03-15 criteria provided, single submitter clinical testing The c.4801dupA pathogenic mutation, located in coding exon 31 of the ATM gene, results from a duplication of A at nucleotide position 4801, causing a translational frameshift with a predicted alternate stop codon (p.S1601Kfs*4). 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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