rs1051624
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004063.4(CDH17):c.2216A>T(p.Glu739Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000186 in 1,609,072 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. 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. E739A) has been classified as Benign.
Frequency
Consequence
NM_004063.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDH17 | NM_004063.4 | c.2216A>T | p.Glu739Val | missense_variant | 16/18 | ENST00000027335.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDH17 | ENST00000027335.8 | c.2216A>T | p.Glu739Val | missense_variant | 16/18 | 1 | NM_004063.4 | P1 | |
CDH17 | ENST00000450165.6 | c.2216A>T | p.Glu739Val | missense_variant | 16/18 | 1 | P1 | ||
CDH17 | ENST00000441892.6 | c.1574A>T | p.Glu525Val | missense_variant | 12/13 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000198 AC: 3AN: 151706Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 250280Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135206
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1457366Hom.: 0 Cov.: 33 AF XY: 0.0000221 AC XY: 16AN XY: 725378
GnomAD4 genome ? AF: 0.0000198 AC: 3AN: 151706Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74000
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at