rs578106295
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_145045.5(ODAD3):c.52G>C(p.Asp18His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000684 in 1,461,322 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D18N) has been classified as Uncertain significance.
Frequency
Consequence
NM_145045.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ODAD3 | NM_145045.5 | c.52G>C | p.Asp18His | missense_variant | 1/13 | ENST00000356392.9 | |
ODAD3 | NM_001302454.2 | c.52G>C | p.Asp18His | missense_variant | 1/11 | ||
ODAD3 | XM_017026241.2 | c.52G>C | p.Asp18His | missense_variant | 1/9 | ||
ODAD3 | NM_001302453.1 | c.82+725G>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ODAD3 | ENST00000356392.9 | c.52G>C | p.Asp18His | missense_variant | 1/13 | 1 | NM_145045.5 | P2 | |
ODAD3 | ENST00000591179.5 | c.52G>C | p.Asp18His | missense_variant | 1/11 | 1 | A2 | ||
ODAD3 | ENST00000586836.5 | c.-330+725G>C | intron_variant | 2 | A2 | ||||
ODAD3 | ENST00000591345.5 | c.52G>C | p.Asp18His | missense_variant, NMD_transcript_variant | 1/14 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461322Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 727020
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at