chr9-6645476-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_000170.3(GLDC):āc.24G>Cā(p.Trp8Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000394 in 1,268,654 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000170.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151550Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000269 AC: 3AN: 1117104Hom.: 0 Cov.: 30 AF XY: 0.00000371 AC XY: 2AN XY: 538808
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151550Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74002
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at