8-94176622-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_004063.4(CDH17):c.343A>G(p.Lys115Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.785 in 1,613,186 control chromosomes in the GnomAD database, including 499,617 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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 nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_004063.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDH17 | NM_004063.4 | c.343A>G | p.Lys115Glu | missense_variant | 5/18 | ENST00000027335.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDH17 | ENST00000027335.8 | c.343A>G | p.Lys115Glu | missense_variant | 5/18 | 1 | NM_004063.4 | P1 | |
CDH17 | ENST00000450165.6 | c.343A>G | p.Lys115Glu | missense_variant | 5/18 | 1 | P1 | ||
CDH17 | ENST00000441892.6 | c.343A>G | p.Lys115Glu | missense_variant | 5/13 | 2 | |||
CDH17 | ENST00000521491.1 | c.343A>G | p.Lys115Glu | missense_variant | 6/7 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.814 AC: 123780AN: 151988Hom.: 50893 Cov.: 32
GnomAD3 exomes AF: 0.770 AC: 193218AN: 251064Hom.: 75032 AF XY: 0.771 AC XY: 104639AN XY: 135688
GnomAD4 exome AF: 0.782 AC: 1142997AN: 1461080Hom.: 448677 Cov.: 43 AF XY: 0.783 AC XY: 569001AN XY: 726856
GnomAD4 genome ? AF: 0.814 AC: 123881AN: 152106Hom.: 50940 Cov.: 32 AF XY: 0.809 AC XY: 60106AN XY: 74326
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at