rs146831535
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_004070.4(CLCNKA):āc.1086C>Gā(p.Phe362Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,460,012 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. F362F) has been classified as Benign.
Frequency
Consequence
NM_004070.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CLCNKA | NM_004070.4 | c.1086C>G | p.Phe362Leu | missense_variant | 12/20 | ENST00000331433.5 | |
CLCNKA | NM_001042704.2 | c.1086C>G | p.Phe362Leu | missense_variant | 12/20 | ||
CLCNKA | NM_001257139.2 | c.957C>G | p.Phe319Leu | missense_variant | 11/19 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CLCNKA | ENST00000331433.5 | c.1086C>G | p.Phe362Leu | missense_variant | 12/20 | 1 | NM_004070.4 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250104Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135424
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1460012Hom.: 0 Cov.: 34 AF XY: 0.00000551 AC XY: 4AN XY: 726300
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at