rs12140311
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000085.5(CLCNKB):āc.1441A>Cā(p.Thr481Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,852 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. T481S) has been classified as Likely benign.
Frequency
Consequence
NM_000085.5 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 |
---|---|---|---|---|---|---|---|
CLCNKB | NM_000085.5 | c.1441A>C | p.Thr481Pro | missense_variant | 15/20 | ENST00000375679.9 | |
CLCNKB | NM_001165945.2 | c.934A>C | p.Thr312Pro | missense_variant | 8/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CLCNKB | ENST00000375679.9 | c.1441A>C | p.Thr481Pro | missense_variant | 15/20 | 1 | NM_000085.5 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000800 AC: 2AN: 250126Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135508
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460852Hom.: 0 Cov.: 36 AF XY: 0.00000138 AC XY: 1AN XY: 726722
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at