chr20-38217305-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001029864.2(KIAA1755):c.2849G>T(p.Arg950Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000162 in 1,608,890 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. R950W) has been classified as Uncertain significance.
Frequency
Consequence
NM_001029864.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KIAA1755 | NM_001029864.2 | c.2849G>T | p.Arg950Leu | missense_variant | 13/14 | ENST00000279024.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIAA1755 | ENST00000279024.9 | c.2849G>T | p.Arg950Leu | missense_variant | 13/14 | 5 | NM_001029864.2 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000526 AC: 8AN: 152210Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000838 AC: 2AN: 238694Hom.: 0 AF XY: 0.00000774 AC XY: 1AN XY: 129282
GnomAD4 exome AF: 0.0000124 AC: 18AN: 1456680Hom.: 0 Cov.: 31 AF XY: 0.00000829 AC XY: 6AN XY: 724132
GnomAD4 genome ? AF: 0.0000526 AC: 8AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 12, 2023 | The c.2849G>T (p.R950L) alteration is located in exon 13 (coding exon 13) of the KIAA1755 gene. This alteration results from a G to T substitution at nucleotide position 2849, causing the arginine (R) at amino acid position 950 to be replaced by a leucine (L). 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