13-99606726-C-T
Variant summary
Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong
The NM_206808.5(CLYBL):c.31C>T(p.Arg11Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000271 in 1,490,350 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/22 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. R11G) has been classified as Uncertain significance.
Frequency
Consequence
NM_206808.5 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000818 AC: 124AN: 151596Hom.: 0 Cov.: 31 show subpopulations
GnomAD2 exomes AF: 0.000109 AC: 11AN: 100508 AF XY: 0.000106 show subpopulations
GnomAD4 exome AF: 0.000209 AC: 280AN: 1338644Hom.: 0 Cov.: 35 AF XY: 0.000215 AC XY: 142AN XY: 660684 show subpopulations
GnomAD4 genome AF: 0.000817 AC: 124AN: 151706Hom.: 0 Cov.: 31 AF XY: 0.000876 AC XY: 65AN XY: 74174 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at