ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4084_4085del (p.Ser1362fs)

dbSNP: rs886039488
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255794 SCV000322133 likely pathogenic not provided 2016-07-12 criteria provided, single submitter clinical testing This deletion of two nucleotides in ATM is denoted c.4084_4085delAG at the cDNA level and p.Ser1362HisfsX2 (S1362HfsX2) at the protein level. The normal sequence, with the bases that are deleted in braces, is TCAG[AG]CACT. The deletion causes a frameshift, which changes a Serine to a Histidine at codon 1362, and creates a premature stop codon at position 2 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider this variant to be likely pathogenic.
Ambry Genetics RCV000564660 SCV000667923 pathogenic Hereditary cancer-predisposing syndrome 2016-05-05 criteria provided, single submitter clinical testing The c.4084_4085delAG pathogenic mutation, located in coding exon 26 of the ATM gene, results from a deletion of two nucleotides between positions 4084 and 4085, 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).
Color Diagnostics, LLC DBA Color Health RCV000564660 SCV000909480 pathogenic Hereditary cancer-predisposing syndrome 2020-05-14 criteria provided, single submitter clinical testing This variant deletes 2 nucleotides in exon 27 of the ATM gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of ATM function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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