| Submission date | 19 Sept 2016 |
| Gene | ATM |
| Mutation (gDNA level) | chr11-108186610-G-A |
| Mutation (cDNA level) | c.6067G>A |
| Reference sequence | NM_000051.3 |
| Prediction at protein level | G2023R (p.Gly2023Arg) |
| Mutation type | missense |
| Exon/intron location | exon 41 of 63 |
| Amino acid location | aa 2023 of 3057 |
| Gene associated phenotype(s) | Ataxia-telangiectasia |
| ClinVar ID | 127416 |
| dbSNP ID | rs11212587 |
| Clinical information (terms) | unaffected patient |
| Clinical information (codes) | – |
| Sex | female |
| A priori interpretation | uncertain significance |
| Notes | This variant is currently reported in ClinVar with conflicting interpretations, ranging from likely benign to uncertain significance. In silico analysis by single, independent algorithms predicts this variant to be possibly damaging (Mutation Taster, Provean, LRT, SIFT), whereas multi-algorithmic software predict the variant to be possibly tolerated (FATHMM, MetaSVM, MetalR). Since Glycine and Arginine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. This codon is conserved across species and is located in the FAT domain. Overall, given the current literature, it remains unclear whether this variant is pathogenic or benign. |
| Submitter | scavalieri@gmail.com |
| References | ClinVar 127416 |
Last update: 2 Oct 2016
Disclaimer: the free mutation interpretation service is offered on a research basis only. Thorough variant interpretation is possible only in presence of patient’s detailed clinical information and complete sequencing data. Raw data file might also be necessary in some cases. Because of this, the above interpretation may be correct, partially correct or wrong. Since the original submission might be imprecise in regard to name, position or format, it is recommended to check again the correspondence between the mutation identified on this page and the originally submitted one. Breda Genetics is not liable for the use of the above results outside of a research context (i.e. for clinical purposes).
