rs151340628
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001127898.4(CLCN5):c.1049G>A(p.Arg350His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,208,612 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. 12/20 in silico tools predict a damaging outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001127898.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CLCN5 | NM_001127898.4 | c.1049G>A | p.Arg350His | missense_variant | 11/15 | ENST00000376091.8 | NP_001121370.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CLCN5 | ENST00000376091.8 | c.1049G>A | p.Arg350His | missense_variant | 11/15 | 2 | NM_001127898.4 | ENSP00000365259 | P3 |
Frequencies
GnomAD3 genomes AF: 0.00000897 AC: 1AN: 111503Hom.: 0 Cov.: 22 AF XY: 0.0000297 AC XY: 1AN XY: 33705
GnomAD3 exomes AF: 0.0000111 AC: 2AN: 180156Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 64950
GnomAD4 exome AF: 0.00000182 AC: 2AN: 1097109Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 362559
GnomAD4 genome AF: 0.00000897 AC: 1AN: 111503Hom.: 0 Cov.: 22 AF XY: 0.0000297 AC XY: 1AN XY: 33705
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at