10-71815240-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_022124.6(CDH23):āc.10027G>Cā(p.Val3343Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000139 in 1,438,592 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V3343M) has been classified as Likely benign.
Frequency
Consequence
NM_022124.6 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 Cov.: 34
GnomAD3 exomes AF: 0.00000424 AC: 1AN: 235706Hom.: 0 AF XY: 0.00000779 AC XY: 1AN XY: 128428
GnomAD4 exome AF: 0.00000139 AC: 2AN: 1438592Hom.: 0 Cov.: 31 AF XY: 0.00000281 AC XY: 2AN XY: 711436
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at