View Gene-Specific Information:
Last Edited by: 2023-05-18
Gene:
Chromosome:
Clinical transcript (RefSeq):
Clinical transcript (Ensembl):
Number of bases in cDNA:
Number of amino acids:
Exon/Intron Information
| Exon/Intron | Exon start (cDNA) | Exon end (cDNA) | Exon length | Intron length |
|---|
| VCEP guidance |
|---|
| CanVIG-UK review of ATM April 2022: consensus to use ClinGen ATM VCEP guidance (available at: https://clinicalgenome.org/affiliation/50039/) for ATM variants reported under indication R208 of the UK Genomic Test Directory. The scope of this test indication currently includes truncating variants (defined as: nonsense, frameshift and canonical splice site (+/- 1/2) variants) and ATM c.7271T>G p.(Val2424Gly). See point of specification in addition to the ATM VCEP guidance for PS4 and PVS1 below. |
| LSDs |
|---|
| PVS1: NMD |
|---|
| PVS1_VS can be used for variants within the first 100bp (based on expert guidance for initiation codons with an expert review of initiation codon in ClinVar; several pathogenic truncating variants have been reported in the first 100bp) |
| PVS1: Splicing |
|---|
| As per VCEP |
| PS3/BS3: Functional assays |
|---|
| As per VCEP |
| PM1/PP2: Constraint/Domains |
|---|
| As per VCEP |
| PP5/BP6 : Reputable source |
|---|
| As per VCEP |
| PP4/PS4: Case-control/Phenotype data) |
|---|
| PS4: p-value ≤.05 AND (Odds Ratio ≥2 OR lower 95% CI of Odds Ratio ≥1.5) |
| PM3/BP2: Biallelic Variants |
|---|
| As per VCEP |
| PM2/BA1/BS1: Allele frequency |
|---|
| As per VCEP |
| BP1: Missense-benign |
|---|
| As per VCEP |
| PS1/PM5: Other variants |
|---|
| As per VCEP |
| PP3/BP4: In silico |
|---|
| As per VCEP |
| PM4: Length change |
|---|
| As per VCEP |
| PP1/BS2/BS4: Segregation |
|---|
| As per VCEP |
| PM6/PS2: De novo |
|---|
| As per VCEP |
| BP3/BP7: Synonymous/In-frame |
|---|
| As per VCEP |
| BS2/BP5: Observed in controls/Alternative disease cause |
|---|
| As per VCEP |