rs708386
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001144825.2(RUNDC3A):c.729T>A(p.Asp243Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000215 in 1,398,200 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001144825.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RUNDC3A | NM_001144825.2 | c.729T>A | p.Asp243Glu | missense_variant | 7/11 | ENST00000426726.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RUNDC3A | ENST00000426726.8 | c.729T>A | p.Asp243Glu | missense_variant | 7/11 | 1 | NM_001144825.2 | P1 | |
RUNDC3A-AS1 | ENST00000588097.5 | n.62A>T | non_coding_transcript_exon_variant | 1/5 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000666 AC: 1AN: 150142Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 80490
GnomAD4 exome AF: 0.00000215 AC: 3AN: 1398200Hom.: 0 Cov.: 51 AF XY: 0.00000145 AC XY: 1AN XY: 689696
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at