6-42935431-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 8P and 5B. PVS1BS1_SupportingBS2
The NM_001318842.1(CNPY3):c.295C>T(p.Gln99*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000302 in 1,343,160 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_001318842.1 stop_gained
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00145 AC: 221AN: 152044Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.000153 AC: 182AN: 1190998Hom.: 2 Cov.: 30 AF XY: 0.000131 AC XY: 75AN XY: 570756
GnomAD4 genome AF: 0.00147 AC: 224AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.00159 AC XY: 118AN XY: 74394
ClinVar
Submissions by phenotype
Developmental and epileptic encephalopathy, 60 Uncertain:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at