rs868938106
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_031421.5(ODAD4):āc.316C>Gā(p.Arg106Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,300 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_031421.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ODAD4 | ENST00000377540.6 | c.316C>G | p.Arg106Gly | missense_variant | Exon 3 of 12 | 1 | NM_031421.5 | ENSP00000478589.1 | ||
ODAD4 | ENST00000591658.5 | n.316C>G | non_coding_transcript_exon_variant | Exon 3 of 10 | 5 | ENSP00000477931.1 | ||||
ODAD4 | ENST00000585530.1 | n.*61+125C>G | intron_variant | Intron 2 of 3 | 3 | ENSP00000479460.1 | ||||
ODAD4 | ENST00000593239.5 | n.*61+125C>G | intron_variant | Intron 3 of 5 | 3 | ENSP00000484975.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461300Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726890
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.