1-18635223-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001135254.2(PAX7):c.434G>T(p.Arg145Leu) 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 ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R145Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_001135254.2 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 |
---|---|---|---|---|---|---|---|
PAX7 | NM_001135254.2 | c.434G>T | p.Arg145Leu | missense_variant | 3/9 | ENST00000420770.7 | |
PAX7 | NM_002584.3 | c.434G>T | p.Arg145Leu | missense_variant | 3/8 | ||
PAX7 | NM_013945.3 | c.434G>T | p.Arg145Leu | missense_variant | 3/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PAX7 | ENST00000420770.7 | c.434G>T | p.Arg145Leu | missense_variant | 3/9 | 1 | NM_001135254.2 | P1 | |
PAX7 | ENST00000375375.7 | c.434G>T | p.Arg145Leu | missense_variant | 3/8 | 1 | |||
PAX7 | ENST00000400661.3 | c.434G>T | p.Arg145Leu | missense_variant | 3/8 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 14, 2022 | The c.434G>T (p.R145L) alteration is located in exon 3 (coding exon 3) of the PAX7 gene. This alteration results from a G to T substitution at nucleotide position 434, causing the arginine (R) at amino acid position 145 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.