1-205338518-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_018203.3(KLHDC8A):c.836G>A(p.Arg279Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000246 in 1,461,718 control chromosomes in the GnomAD database, including 1 homozygotes. 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. R279W) has been classified as Uncertain significance.
Frequency
Consequence
NM_018203.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KLHDC8A | NM_018203.3 | c.836G>A | p.Arg279Gln | missense_variant | Exon 5 of 6 | ENST00000367155.8 | NP_060673.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000597 AC: 15AN: 251432Hom.: 1 AF XY: 0.0000589 AC XY: 8AN XY: 135892
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461718Hom.: 1 Cov.: 30 AF XY: 0.0000275 AC XY: 20AN XY: 727182
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.836G>A (p.R279Q) alteration is located in exon 5 (coding exon 4) of the KLHDC8A gene. This alteration results from a G to A substitution at nucleotide position 836, causing the arginine (R) at amino acid position 279 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