rs760854519
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PM4_Supporting
The NM_001364171.2(ODAD1):c.719_721delAGG(p.Glu240del) variant causes a disruptive inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000103 in 1,613,906 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001364171.2 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ODAD1 | NM_001364171.2 | c.719_721delAGG | p.Glu240del | disruptive_inframe_deletion | Exon 9 of 16 | ENST00000674294.1 | NP_001351100.1 | |
ODAD1 | NM_144577.4 | c.608_610delAGG | p.Glu203del | disruptive_inframe_deletion | Exon 7 of 14 | NP_653178.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ODAD1 | ENST00000674294.1 | c.719_721delAGG | p.Glu240del | disruptive_inframe_deletion | Exon 9 of 16 | NM_001364171.2 | ENSP00000501363.1 |
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152240Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000836 AC: 21AN: 251200Hom.: 0 AF XY: 0.000110 AC XY: 15AN XY: 135786
GnomAD4 exome AF: 0.000105 AC: 154AN: 1461666Hom.: 1 AF XY: 0.000113 AC XY: 82AN XY: 727132
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152240Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74386
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Uncertain:1
This variant, c.608_610del, results in the deletion of 1 amino acid(s) of the CCDC114 protein (p.Glu203del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs760854519, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with CCDC114-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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