17-41935692-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_031421.5(ODAD4):c.340C>T(p.Arg114Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000105 in 1,613,684 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 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. R114Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_031421.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ODAD4 | ENST00000377540.6 | c.340C>T | p.Arg114Trp | missense_variant | Exon 3 of 12 | 1 | NM_031421.5 | ENSP00000478589.1 | ||
ODAD4 | ENST00000591658.5 | n.340C>T | non_coding_transcript_exon_variant | Exon 3 of 10 | 5 | ENSP00000477931.1 | ||||
ODAD4 | ENST00000585530.1 | n.*61+149C>T | intron_variant | Intron 2 of 3 | 3 | ENSP00000479460.1 | ||||
ODAD4 | ENST00000593239.5 | n.*61+149C>T | intron_variant | Intron 3 of 5 | 3 | ENSP00000484975.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152216Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248758Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 134972
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461468Hom.: 0 Cov.: 31 AF XY: 0.0000165 AC XY: 12AN XY: 726992
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152216Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74364
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia 35 Uncertain:1
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at