chr16-1447052-C-G
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM2PM5PP3_Strong
The NM_001287.6(CLCN7):āc.2285G>Cā(p.Arg762Pro) variant causes a missense change. The variant allele was found at a frequency of 0.0000025 in 1,602,518 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R762W) has been classified as Likely pathogenic.
Frequency
Consequence
NM_001287.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CLCN7 | NM_001287.6 | c.2285G>C | p.Arg762Pro | missense_variant | 24/25 | ENST00000382745.9 | NP_001278.1 | |
CLCN7 | NM_001114331.3 | c.2213G>C | p.Arg738Pro | missense_variant | 23/24 | NP_001107803.1 | ||
CLCN7 | XM_011522354.2 | c.2111G>C | p.Arg704Pro | missense_variant | 24/25 | XP_011520656.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CLCN7 | ENST00000382745.9 | c.2285G>C | p.Arg762Pro | missense_variant | 24/25 | 1 | NM_001287.6 | ENSP00000372193.4 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152072Hom.: 0 Cov.: 34
GnomAD4 exome AF: 0.00000207 AC: 3AN: 1450446Hom.: 0 Cov.: 31 AF XY: 0.00000139 AC XY: 1AN XY: 721668
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152072Hom.: 0 Cov.: 34 AF XY: 0.0000135 AC XY: 1AN XY: 74276
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at