rs8017603
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001365790.2(KLHL33):āc.65G>Cā(p.Arg22Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000659 in 151,788 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 5/6 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001365790.2 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 |
---|---|---|---|---|---|---|---|
KLHL33 | NM_001365790.2 | c.65G>C | p.Arg22Thr | missense_variant | 2/5 | ENST00000636854.3 | |
KLHL33 | XM_011536450.3 | c.65G>C | p.Arg22Thr | missense_variant | 2/5 | ||
KLHL33 | NM_001109997.3 | c.-328G>C | 5_prime_UTR_variant | 1/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KLHL33 | ENST00000636854.3 | c.65G>C | p.Arg22Thr | missense_variant | 2/5 | 5 | NM_001365790.2 | P1 | |
KLHL33 | ENST00000637228.1 | c.65G>C | p.Arg22Thr | missense_variant | 1/4 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000659 AC: 1AN: 151788Hom.: 0 Cov.: 31
GnomAD4 exome Cov.: 39
GnomAD4 genome ? AF: 0.00000659 AC: 1AN: 151788Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74106
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at