8-144528767-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001001795.2(C8orf82):c.150G>T(p.Gln50His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000283 in 1,413,378 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001001795.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000133 AC: 2AN: 150034Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000158 AC: 2AN: 1263344Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 613832
GnomAD4 genome AF: 0.0000133 AC: 2AN: 150034Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 73252
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.150G>T (p.Q50H) alteration is located in exon 1 (coding exon 1) of the C8orf82 gene. This alteration results from a G to T substitution at nucleotide position 150, causing the glutamine (Q) at amino acid position 50 to be replaced by a histidine (H). 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