rs144682183
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001282684.2(KCTD17):c.569G>A(p.Ser190Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000089 in 1,460,218 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S190T) has been classified as Uncertain significance.
Frequency
Consequence
NM_001282684.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KCTD17 | NM_001282684.2 | c.569G>A | p.Ser190Asn | missense_variant | 5/9 | ENST00000403888.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCTD17 | ENST00000403888.8 | c.569G>A | p.Ser190Asn | missense_variant | 5/9 | 1 | NM_001282684.2 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 248976Hom.: 0 AF XY: 0.0000223 AC XY: 3AN XY: 134752
GnomAD4 exome AF: 0.00000890 AC: 13AN: 1460218Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 726488
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at