Our verdict is Likely benign. Variant got -1 ACMG points: 3P and 4B. PM2_SupportingPM5BP4_Strong
The NM_000051(ATM):c.2119T>A(p.Ser707Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S707P) has been classified as Likely benign.
Verdict is Likely_benign. Variant got -1 ACMG points.
GnomAD3 genomesCov.: 32
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
No publications associated with this variant yet.