22-41237241-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_138481.2(CHADL):c.1831G>A(p.Gly611Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000161 in 1,550,336 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_138481.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CHADL | ENST00000216241.14 | c.1831G>A | p.Gly611Arg | missense_variant | Exon 3 of 6 | 1 | NM_138481.2 | ENSP00000216241.9 | ||
CHADL | ENST00000417999.5 | c.1822G>A | p.Gly608Arg | missense_variant | Exon 2 of 5 | 5 | ENSP00000392046.1 | |||
CHADL | ENST00000455425.1 | c.322G>A | p.Gly108Arg | missense_variant | Exon 2 of 4 | 2 | ENSP00000412359.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152252Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000196 AC: 3AN: 152944Hom.: 0 AF XY: 0.0000123 AC XY: 1AN XY: 81468
GnomAD4 exome AF: 0.0000157 AC: 22AN: 1398084Hom.: 0 Cov.: 33 AF XY: 0.0000131 AC XY: 9AN XY: 689566
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152252Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74380
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1831G>A (p.G611R) alteration is located in exon 3 (coding exon 3) of the CHADL gene. This alteration results from a G to A substitution at nucleotide position 1831, causing the glycine (G) at amino acid position 611 to be replaced by an arginine (R). 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