NM_006023.3:c.701T>C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006023.3(CDC123):c.701T>C(p.Ile234Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000139 in 1,607,628 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006023.3 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: 0.000217 AC: 33AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000216 AC: 53AN: 244876Hom.: 0 AF XY: 0.000219 AC XY: 29AN XY: 132340
GnomAD4 exome AF: 0.000131 AC: 191AN: 1455424Hom.: 1 Cov.: 30 AF XY: 0.000149 AC XY: 108AN XY: 723754
GnomAD4 genome AF: 0.000217 AC: 33AN: 152204Hom.: 0 Cov.: 32 AF XY: 0.000242 AC XY: 18AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.701T>C (p.I234T) alteration is located in exon 10 (coding exon 10) of the CDC123 gene. This alteration results from a T to C substitution at nucleotide position 701, causing the isoleucine (I) at amino acid position 234 to be replaced by a threonine (T). 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