V2.1 (version history)

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View Gene Specific Info:

Last Edited by: 2022-05-06

Gene:
Chromosome:
Clinical transcript: REFSEQ:
Clinical transcript: ENSEMBL:
Number of bases in c.DNA:
Number of amino acids:
Exon/Intron Info.
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 below.
LSDs
PVS1: NMD
PVS1: Splicing
PS3/BS3: Functional assays
PM1/PP2: Constraint/Domains
PP5/BP6 : Reputable source
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
PM2/BA1/BS1: Allele frequency
BP1: missense-benign
PS1/PM5: Other variants
PP3/BP4: In silico
PM4: Length change
PP1/BS2/BS4: Segregation
PM6/PS2: De novo
BP3/BP7: Synonymous/In-frame
BS2/BP5: Observed in controls/Alternative disease cause