19-11422722-G-T
Variant summary
Our verdict is Pathogenic. Variant got 12 ACMG points: 12P and 0B. PVS1PM2PP5_Moderate
The NM_145045.5(ODAD3):c.1256C>A(p.Ser419*) variant causes a stop gained change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (★). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_145045.5 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ODAD3 | NM_145045.5 | c.1256C>A | p.Ser419* | stop_gained | Exon 9 of 13 | ENST00000356392.9 | NP_659482.3 | |
ODAD3 | NM_001302453.1 | c.1094C>A | p.Ser365* | stop_gained | Exon 9 of 13 | NP_001289382.1 | ||
ODAD3 | NM_001302454.2 | c.1076C>A | p.Ser359* | stop_gained | Exon 7 of 11 | NP_001289383.1 | ||
ODAD3 | XM_017026241.2 | c.*150C>A | downstream_gene_variant | XP_016881730.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1460244Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 726480
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia 30 Pathogenic:2
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For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 156366). This premature translational stop signal has been observed in individual(s) with primary ciliary dyskinesia (PMID: 25192045). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser419*) in the CCDC151 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CCDC151 are known to be pathogenic (PMID: 25192045). -
Kartagener syndrome Other:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at