14-23049066-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_144985.4(CDH24):c.1807G>A(p.Ala603Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00106 in 1,612,778 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_144985.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000604 AC: 92AN: 152258Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000382 AC: 94AN: 246016Hom.: 0 AF XY: 0.000410 AC XY: 55AN XY: 133986
GnomAD4 exome AF: 0.00111 AC: 1624AN: 1460402Hom.: 4 Cov.: 32 AF XY: 0.00109 AC XY: 791AN XY: 726506
GnomAD4 genome AF: 0.000604 AC: 92AN: 152376Hom.: 0 Cov.: 33 AF XY: 0.000564 AC XY: 42AN XY: 74514
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1921G>A (p.A641T) alteration is located in exon 12 (coding exon 11) of the CDH24 gene. This alteration results from a G to A substitution at nucleotide position 1921, causing the alanine (A) at amino acid position 641 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