Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001180993 | SCV001346046 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-07 | criteria provided, single submitter | clinical testing | This variant causes an A>G nucleotide substitution at the -2 position of intron 37 of the ATM gene. This variant is predicted to disrupt the intron 37 splice acceptor site. There are also alternative AG dinucleotides in the adjacent exon 38 that may be used for splicing, creating aberrant mRNA transcripts with possible frameshift and in-frame impacts. To our knowledge, functional and RNA studies have not been performed for this variant nor has this variant 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. Based on the available evidence, this variant is classified as Likely Pathogenic. |