19-48297053-T-TGCTGGACCCGAGGCCTCC
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Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The NM_001364171.2(ODAD1):c.2046_2047insGGAGGCCTCGGGTCCAGC(p.Gly677_Ser682dup) variant causes a inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,566 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Genomes: not found (cov: 32)
Exomes 𝑓: 6.8e-7 ( 0 hom. )
Consequence
ODAD1
NM_001364171.2 inframe_insertion
NM_001364171.2 inframe_insertion
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 1.89
Genes affected
ODAD1 (HGNC:26560): (outer dynein arm docking complex subunit 1) This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [provided by RefSeq, May 2013]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 4 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
PM4
Nonframeshift variant in NON repetitive region in NM_001364171.2.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| ODAD1 | NM_001364171.2 | c.2046_2047insGGAGGCCTCGGGTCCAGC | p.Gly677_Ser682dup | inframe_insertion | 16/16 | ENST00000674294.1 | NP_001351100.1 | |
| ODAD1 | NM_144577.4 | c.1935_1936insGGAGGCCTCGGGTCCAGC | p.Gly640_Ser645dup | inframe_insertion | 14/14 | NP_653178.3 |
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| ODAD1 | ENST00000674294.1 | c.2046_2047insGGAGGCCTCGGGTCCAGC | p.Gly677_Ser682dup | inframe_insertion | 16/16 | NM_001364171.2 | ENSP00000501363 | P2 |
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250276Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135440
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GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460566Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 726666
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GnomAD4 genome
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ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Primary ciliary dyskinesia Uncertain:1
| Uncertain significance, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jun 27, 2022 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with CCDC114-related conditions. This variant is present in population databases (rs772407409, gnomAD 0.003%). This variant, c.1918_1935dup, results in the insertion of 6 amino acid(s) of the CCDC114 protein (p.Gly640_Ser645dup), but otherwise preserves the integrity of the reading frame. - |
Computational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at