16-88707188-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BS1_Supporting
The NM_001012759.3(CTU2):āc.121C>Gā(p.Arg41Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000152 in 1,613,930 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001012759.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CTU2 | NM_001012759.3 | c.121C>G | p.Arg41Gly | missense_variant | Exon 2 of 15 | ENST00000453996.7 | NP_001012777.1 | |
CTU2 | NM_001318507.2 | c.121C>G | p.Arg41Gly | missense_variant | Exon 2 of 15 | NP_001305436.1 | ||
CTU2 | NM_001012762.3 | c.121C>G | p.Arg41Gly | missense_variant | Exon 2 of 14 | NP_001012780.1 | ||
CTU2 | NM_001318513.2 | c.-62C>G | 5_prime_UTR_variant | Exon 2 of 14 | NP_001305442.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 23AN: 152220Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000175 AC: 44AN: 250916Hom.: 0 AF XY: 0.000236 AC XY: 32AN XY: 135834
GnomAD4 exome AF: 0.000152 AC: 222AN: 1461592Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 127AN XY: 727070
GnomAD4 genome AF: 0.000151 AC: 23AN: 152338Hom.: 0 Cov.: 33 AF XY: 0.000121 AC XY: 9AN XY: 74492
ClinVar
Submissions by phenotype
CTU2-related disorder Uncertain:1
The CTU2 c.121C>G variant is predicted to result in the amino acid substitution p.Arg41Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.046% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-88773596-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
not provided Uncertain:1
This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 41 of the CTU2 protein (p.Arg41Gly). This variant is present in population databases (rs201724248, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with CTU2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at