1-16044572-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000085.5(CLCNKB):c.80G>A(p.Arg27His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000461 in 151,898 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign 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. R27L) has been classified as Benign.
Frequency
Consequence
NM_000085.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CLCNKB | NM_000085.5 | c.80G>A | p.Arg27His | missense_variant | 2/20 | ENST00000375679.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CLCNKB | ENST00000375679.9 | c.80G>A | p.Arg27His | missense_variant | 2/20 | 1 | NM_000085.5 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0000461 AC: 7AN: 151780Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000132 AC: 3AN: 226810Hom.: 0 AF XY: 0.00000818 AC XY: 1AN XY: 122216
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000269 AC: 39AN: 1449300Hom.: 0 Cov.: 48 AF XY: 0.0000250 AC XY: 18AN XY: 719472
GnomAD4 genome AF: 0.0000461 AC: 7AN: 151898Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74224
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at