19-11421197-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_145045.5(ODAD3):āc.1606G>Cā(p.Glu536Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,148 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. E536K) has been classified as Uncertain significance.
Frequency
Consequence
NM_145045.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ODAD3 | NM_145045.5 | c.1606G>C | p.Glu536Gln | missense_variant | 12/13 | ENST00000356392.9 | |
ODAD3 | NM_001302453.1 | c.1444G>C | p.Glu482Gln | missense_variant | 12/13 | ||
ODAD3 | NM_001302454.2 | c.1426G>C | p.Glu476Gln | missense_variant | 10/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ODAD3 | ENST00000356392.9 | c.1606G>C | p.Glu536Gln | missense_variant | 12/13 | 1 | NM_145045.5 | P2 | |
ODAD3 | ENST00000591179.5 | c.1426G>C | p.Glu476Gln | missense_variant | 10/11 | 1 | A2 | ||
ODAD3 | ENST00000586836.5 | c.1033G>C | p.Glu345Gln | missense_variant | 12/13 | 2 | A2 | ||
ODAD3 | ENST00000591345.5 | c.*1525G>C | 3_prime_UTR_variant, NMD_transcript_variant | 13/14 | 5 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461148Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 726766
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at