4-174308707-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001040157.3(CEP44):c.526C>T(p.Arg176Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000548 in 1,604,792 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_001040157.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152032Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000161 AC: 40AN: 248838Hom.: 0 AF XY: 0.000178 AC XY: 24AN XY: 134528
GnomAD4 exome AF: 0.0000489 AC: 71AN: 1452642Hom.: 0 Cov.: 31 AF XY: 0.0000541 AC XY: 39AN XY: 720970
GnomAD4 genome AF: 0.000112 AC: 17AN: 152150Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74380
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.526C>T (p.R176C) alteration is located in exon 7 (coding exon 5) of the CEP44 gene. This alteration results from a C to T substitution at nucleotide position 526, causing the arginine (R) at amino acid position 176 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