chr5-19520709-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000382275.6(CDH18):āc.1460A>Cā(p.Glu487Ala) variant causes a missense change. The variant allele was found at a frequency of 0.0000089 in 1,461,296 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E487K) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000382275.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CDH18 | NM_004934.5 | c.1460A>C | p.Glu487Ala | missense_variant | 10/13 | ENST00000382275.6 | NP_004925.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CDH18 | ENST00000382275.6 | c.1460A>C | p.Glu487Ala | missense_variant | 10/13 | 1 | NM_004934.5 | ENSP00000371710 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250994Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135672
GnomAD4 exome AF: 0.00000890 AC: 13AN: 1461296Hom.: 0 Cov.: 30 AF XY: 0.0000151 AC XY: 11AN XY: 726976
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 18, 2022 | The c.1460A>C (p.E487A) alteration is located in exon 10 (coding exon 8) of the CDH18 gene. This alteration results from a A to C substitution at nucleotide position 1460, causing the glutamic acid (E) at amino acid position 487 to be replaced by an alanine (A). 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