rs886037780
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM1PM2PP5_Moderate
The NM_000287.4(PEX6):āc.275T>Gā(p.Val92Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000747 in 1,338,102 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Pathogenic (ā ). Synonymous variant affecting the same amino acid position (i.e. V92V) has been classified as Likely benign.
Frequency
Consequence
NM_000287.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PEX6 | NM_000287.4 | c.275T>G | p.Val92Gly | missense_variant | 1/17 | ENST00000304611.13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PEX6 | ENST00000304611.13 | c.275T>G | p.Val92Gly | missense_variant | 1/17 | 1 | NM_000287.4 | P1 | |
PEX6 | ENST00000244546.4 | c.275T>G | p.Val92Gly | missense_variant | 1/15 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 7.47e-7 AC: 1AN: 1338102Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 660254
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Heimler syndrome 2 Pathogenic:1
Pathogenic, criteria provided, single submitter | research | Leeds Amelogenesis Imperfecta Research Group, University of Leeds | Oct 01, 2015 | Newly identified - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at