chr8-94151907-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004063.4(CDH17):c.1757G>C(p.Gly586Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000372 in 1,614,036 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
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.1757G>C | p.Gly586Ala | missense_variant | 13/18 | ENST00000027335.8 | |
LOC105375647 | XR_007061012.1 | n.518+7634C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDH17 | ENST00000027335.8 | c.1757G>C | p.Gly586Ala | missense_variant | 13/18 | 1 | NM_004063.4 | P1 | |
CDH17 | ENST00000450165.6 | c.1757G>C | p.Gly586Ala | missense_variant | 13/18 | 1 | P1 | ||
CDH17 | ENST00000441892.6 | c.1115G>C | p.Gly372Ala | missense_variant | 9/13 | 2 | |||
CDH17 | ENST00000520952.1 | c.236-3033G>C | intron_variant, NMD_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152198Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251234Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135768
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461838Hom.: 0 Cov.: 32 AF XY: 0.00000550 AC XY: 4AN XY: 727218
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152198Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 07, 2023 | The c.1757G>C (p.G586A) alteration is located in exon 13 (coding exon 12) of the CDH17 gene. This alteration results from a G to C substitution at nucleotide position 1757, causing the glycine (G) at amino acid position 586 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