rs113520498
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001364171.2(ODAD1):c.703C>T(p.Arg235Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000103 in 1,460,622 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R235H) has been classified as Uncertain significance.
Frequency
Consequence
NM_001364171.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ODAD1 | NM_001364171.2 | c.703C>T | p.Arg235Cys | missense_variant | 9/16 | ENST00000674294.1 | |
ODAD1 | NM_144577.4 | c.592C>T | p.Arg198Cys | missense_variant | 7/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ODAD1 | ENST00000674294.1 | c.703C>T | p.Arg235Cys | missense_variant | 9/16 | NM_001364171.2 | P2 | ||
ODAD1 | ENST00000315396.7 | c.592C>T | p.Arg198Cys | missense_variant | 7/14 | 1 | A2 | ||
ODAD1 | ENST00000474199.6 | c.703C>T | p.Arg235Cys | missense_variant | 9/15 | 2 | A2 | ||
ODAD1 | ENST00000674207.1 | c.*411C>T | 3_prime_UTR_variant, NMD_transcript_variant | 7/13 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 250196Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135316
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1460622Hom.: 0 Cov.: 33 AF XY: 0.0000124 AC XY: 9AN XY: 726476
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Aug 31, 2021 | This sequence change replaces arginine with cysteine at codon 198 of the CCDC114 protein (p.Arg198Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs113520498, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with CCDC114-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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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