4-174303709-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001040157.3(CEP44):c.244C>T(p.Arg82Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000368 in 1,521,962 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R82H) has been classified as Uncertain significance.
Frequency
Consequence
NM_001040157.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152156Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000122 AC: 29AN: 238382Hom.: 0 AF XY: 0.0000853 AC XY: 11AN XY: 129012
GnomAD4 exome AF: 0.0000307 AC: 42AN: 1369688Hom.: 0 Cov.: 25 AF XY: 0.0000311 AC XY: 21AN XY: 675466
GnomAD4 genome AF: 0.0000919 AC: 14AN: 152274Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74446
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.244C>T (p.R82C) alteration is located in exon 5 (coding exon 3) of the CEP44 gene. This alteration results from a C to T substitution at nucleotide position 244, causing the arginine (R) at amino acid position 82 to be replaced by a cysteine (C). 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