4-1212305-C-G
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP4
The NM_001012614.2(CTBP1):āc.1225G>Cā(p.Ala409Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts 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. A409S) has been classified as Uncertain significance.
Frequency
Consequence
NM_001012614.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 138190Hom.: 0 Cov.: 32 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000110 AC: 44AN: 400692Hom.: 0 Cov.: 10 AF XY: 0.000141 AC XY: 30AN XY: 212704
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000145 AC: 2AN: 138290Hom.: 0 Cov.: 32 AF XY: 0.0000149 AC XY: 1AN XY: 66906
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at