chr19-11421150-G-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_145045.5(ODAD3):c.1653C>T(p.Ala551=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: not found (cov: 31)
Consequence
ODAD3
NM_145045.5 synonymous
NM_145045.5 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -1.31
Genes affected
ODAD3 (HGNC:28303): (outer dynein arm docking complex subunit 3) This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -5 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.8).
BP6
?
Variant 19-11421150-G-A is Benign according to our data. Variant chr19-11421150-G-A is described in ClinVar as [Likely_benign]. Clinvar id is 2806882.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
?
Synonymous conserved (PhyloP=-1.31 with no splicing effect.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ODAD3 | NM_145045.5 | c.1653C>T | p.Ala551= | synonymous_variant | 12/13 | ENST00000356392.9 | |
ODAD3 | NM_001302453.1 | c.1491C>T | p.Ala497= | synonymous_variant | 12/13 | ||
ODAD3 | NM_001302454.2 | c.1473C>T | p.Ala491= | synonymous_variant | 10/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ODAD3 | ENST00000356392.9 | c.1653C>T | p.Ala551= | synonymous_variant | 12/13 | 1 | NM_145045.5 | P2 | |
ODAD3 | ENST00000591179.5 | c.1473C>T | p.Ala491= | synonymous_variant | 10/11 | 1 | A2 | ||
ODAD3 | ENST00000586836.5 | c.1080C>T | p.Ala360= | synonymous_variant | 12/13 | 2 | A2 | ||
ODAD3 | ENST00000591345.5 | c.*1572C>T | 3_prime_UTR_variant, NMD_transcript_variant | 13/14 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 genomes
?
Cov.:
31
GnomAD4 exome Cov.: 32
GnomAD4 exome
Cov.:
32
GnomAD4 genome ? Cov.: 31
GnomAD4 genome
?
Cov.:
31
ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Primary ciliary dyskinesia 30 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 04, 2022 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.