16-66909363-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004062.4(CDH16):c.2296G>A(p.Val766Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000025 in 1,397,362 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004062.4 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: 0.0000346 AC: 5AN: 144652Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000321 AC: 8AN: 249484Hom.: 0 AF XY: 0.0000518 AC XY: 7AN XY: 135198
GnomAD4 exome AF: 0.0000239 AC: 30AN: 1252710Hom.: 0 Cov.: 32 AF XY: 0.0000289 AC XY: 18AN XY: 621766
GnomAD4 genome AF: 0.0000346 AC: 5AN: 144652Hom.: 0 Cov.: 32 AF XY: 0.0000284 AC XY: 2AN XY: 70434
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2296G>A (p.V766M) alteration is located in exon 17 (coding exon 16) of the CDH16 gene. This alteration results from a G to A substitution at nucleotide position 2296, causing the valine (V) at amino acid position 766 to be replaced by a methionine (M). 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