chr22-37051765-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001282684.2(KCTD17):āc.5G>Cā(p.Arg2Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000924 in 1,082,382 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R2S) has been classified as Uncertain significance.
Frequency
Consequence
NM_001282684.2 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 |
---|---|---|---|---|---|---|---|
KCTD17 | NM_001282684.2 | c.5G>C | p.Arg2Thr | missense_variant | 1/9 | ENST00000403888.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCTD17 | ENST00000403888.8 | c.5G>C | p.Arg2Thr | missense_variant | 1/9 | 1 | NM_001282684.2 | A2 | |
KCTD17 | ENST00000402077.8 | c.5G>C | p.Arg2Thr | missense_variant | 1/8 | 1 | A2 | ||
KCTD17 | ENST00000610767.5 | c.5G>C | p.Arg2Thr | missense_variant | 1/6 | 3 | P2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 9.24e-7 AC: 1AN: 1082382Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 514266
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
Myoclonic dystonia 26 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Baylor Genetics | Oct 21, 2019 | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at