NM_001364171.2:c.1632C>T
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_001364171.2(ODAD1):c.1632C>T(p.Ala544Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00299 in 1,601,156 control chromosomes in the GnomAD database, including 131 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001364171.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ODAD1 | ENST00000674294.1 | c.1632C>T | p.Ala544Ala | synonymous_variant | Exon 16 of 16 | NM_001364171.2 | ENSP00000501363.1 |
Frequencies
GnomAD3 genomes AF: 0.0155 AC: 2359AN: 152086Hom.: 64 Cov.: 33
GnomAD3 exomes AF: 0.00415 AC: 956AN: 230450Hom.: 26 AF XY: 0.00301 AC XY: 381AN XY: 126550
GnomAD4 exome AF: 0.00168 AC: 2429AN: 1448952Hom.: 67 Cov.: 62 AF XY: 0.00145 AC XY: 1048AN XY: 720926
GnomAD4 genome AF: 0.0155 AC: 2364AN: 152204Hom.: 64 Cov.: 33 AF XY: 0.0151 AC XY: 1122AN XY: 74424
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Benign:2
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This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
not provided Benign:2
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not specified Benign:1
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Primary ciliary dyskinesia 20 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at