ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2882del (p.Leu961fs)

dbSNP: rs587781805
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130076 SCV000184903 pathogenic Hereditary cancer-predisposing syndrome 2014-01-30 criteria provided, single submitter clinical testing The c.2882delT pathogenic mutation, located in coding exon 18 of the ATM gene, results from a deletion of one nucleotide at position 2882, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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