rs724160001
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM2PM5PP3_Moderate
The NM_002617.4(PEX10):c.932G>T(p.Arg311Leu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic 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. R311Q) has been classified as Likely pathogenic.
Frequency
Consequence
NM_002617.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PEX10 | NM_002617.4 | c.932G>T | p.Arg311Leu | missense_variant | 6/6 | ENST00000447513.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PEX10 | ENST00000447513.7 | c.932G>T | p.Arg311Leu | missense_variant | 6/6 | 1 | NM_002617.4 | P4 | |
PEX10 | ENST00000288774.8 | c.992G>T | p.Arg331Leu | missense_variant | 6/6 | 1 | |||
PEX10 | ENST00000507596.5 | c.926G>T | p.Arg309Leu | missense_variant | 6/6 | 5 | A1 | ||
PEX10 | ENST00000650293.1 | c.887G>T | p.Arg296Leu | missense_variant, NMD_transcript_variant | 6/8 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1447254Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 718522
GnomAD4 genome ? Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at