chr6-136826459-A-G
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM2PP3_StrongPP5
The NM_000288.4(PEX7):c.329A>G(p.His110Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in Lovd as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H110Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_000288.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PEX7 | NM_000288.4 | c.329A>G | p.His110Arg | missense_variant | 3/10 | ENST00000318471.5 | |
PEX7 | NM_001410945.1 | c.215A>G | p.His72Arg | missense_variant | 3/10 | ||
PEX7 | XM_006715502.3 | c.329A>G | p.His110Arg | missense_variant | 3/7 | ||
PEX7 | XM_047418874.1 | c.329A>G | p.His110Arg | missense_variant | 3/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PEX7 | ENST00000318471.5 | c.329A>G | p.His110Arg | missense_variant | 3/10 | 1 | NM_000288.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at