rs61752131
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM5
The NM_001127649.3(PEX26):c.131T>A(p.Leu44His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000352 in 1,419,390 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. L44F) has been classified as Likely benign.
Frequency
Consequence
NM_001127649.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PEX26 | NM_001127649.3 | c.131T>A | p.Leu44His | missense_variant | 1/5 | ENST00000399744.8 | |
PEX26 | NM_017929.6 | c.131T>A | p.Leu44His | missense_variant | 2/6 | ||
PEX26 | NM_001199319.2 | c.131T>A | p.Leu44His | missense_variant | 2/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PEX26 | ENST00000399744.8 | c.131T>A | p.Leu44His | missense_variant | 1/5 | 1 | NM_001127649.3 | P1 | |
ENST00000607927.1 | n.378A>T | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000575 AC: 1AN: 173960Hom.: 0 AF XY: 0.0000104 AC XY: 1AN XY: 95992
GnomAD4 exome AF: 0.00000352 AC: 5AN: 1419390Hom.: 0 Cov.: 31 AF XY: 0.00000427 AC XY: 3AN XY: 703178
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at