chr4-44448160-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_198353.3(KCTD8):c.364G>A(p.Glu122Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000111 in 1,612,414 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E122Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_198353.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KCTD8 | NM_198353.3 | c.364G>A | p.Glu122Lys | missense_variant | 1/2 | ENST00000360029.4 | |
KCTD8 | XM_011513690.4 | c.364G>A | p.Glu122Lys | missense_variant | 1/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCTD8 | ENST00000360029.4 | c.364G>A | p.Glu122Lys | missense_variant | 1/2 | 1 | NM_198353.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000790 AC: 12AN: 151978Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000609 AC: 15AN: 246208Hom.: 0 AF XY: 0.0000669 AC XY: 9AN XY: 134464
GnomAD4 exome AF: 0.000114 AC: 167AN: 1460436Hom.: 0 Cov.: 32 AF XY: 0.000107 AC XY: 78AN XY: 726536
GnomAD4 genome AF: 0.0000790 AC: 12AN: 151978Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74210
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 22, 2024 | The c.364G>A (p.E122K) alteration is located in exon 1 (coding exon 1) of the KCTD8 gene. This alteration results from a G to A substitution at nucleotide position 364, causing the glutamic acid (E) at amino acid position 122 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at