chr20-38217461-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001029864.2(KIAA1755):c.2693G>A(p.Arg898Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000084 in 1,607,612 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001029864.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KIAA1755 | NM_001029864.2 | c.2693G>A | p.Arg898Gln | missense_variant | 13/14 | ENST00000279024.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIAA1755 | ENST00000279024.9 | c.2693G>A | p.Arg898Gln | missense_variant | 13/14 | 5 | NM_001029864.2 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.000131 AC: 20AN: 152164Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000144 AC: 34AN: 235614Hom.: 0 AF XY: 0.000156 AC XY: 20AN XY: 128298
GnomAD4 exome AF: 0.0000790 AC: 115AN: 1455448Hom.: 0 Cov.: 32 AF XY: 0.0000829 AC XY: 60AN XY: 723540
GnomAD4 genome ? AF: 0.000131 AC: 20AN: 152164Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 28, 2022 | The c.2693G>A (p.R898Q) alteration is located in exon 13 (coding exon 13) of the KIAA1755 gene. This alteration results from a G to A substitution at nucleotide position 2693, causing the arginine (R) at amino acid position 898 to be replaced by a glutamine (Q). 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