chr1-18635223-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001135254.2(PAX7):c.434G>A(p.Arg145Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000248 in 1,613,540 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R145L) 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PAX7 | NM_001135254.2 | c.434G>A | p.Arg145Gln | missense_variant | 3/9 | ENST00000420770.7 | |
PAX7 | NM_002584.3 | c.434G>A | p.Arg145Gln | missense_variant | 3/8 | ||
PAX7 | NM_013945.3 | c.434G>A | p.Arg145Gln | missense_variant | 3/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PAX7 | ENST00000420770.7 | c.434G>A | p.Arg145Gln | missense_variant | 3/9 | 1 | NM_001135254.2 | P1 | |
PAX7 | ENST00000375375.7 | c.434G>A | p.Arg145Gln | missense_variant | 3/8 | 1 | |||
PAX7 | ENST00000400661.3 | c.434G>A | p.Arg145Gln | missense_variant | 3/8 | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152134Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251084Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135752
GnomAD4 exome AF: 0.0000198 AC: 29AN: 1461406Hom.: 0 Cov.: 31 AF XY: 0.0000206 AC XY: 15AN XY: 727020
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152134Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74316
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 17, 2022 | The c.434G>A (p.R145Q) alteration is located in exon 3 (coding exon 3) of the PAX7 gene. This alteration results from a G to A substitution at nucleotide position 434, causing the arginine (R) at amino acid position 145 to be replaced by a glutamine (Q). 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