rs727504229
Positions:
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP5
The NM_005202.4(COL8A2):c.1363_1364delinsGT(p.Gln455Val) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Genomes: not found (cov: 33)
Consequence
COL8A2
NM_005202.4 missense
NM_005202.4 missense
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 3.82
Genes affected
COL8A2 (HGNC:2216): (collagen type VIII alpha 2 chain) This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 3 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
PP5
Variant 1-36098317-TG-AC is Pathogenic according to our data. Variant chr1-36098317-TG-AC is described in ClinVar as [Pathogenic]. Clinvar id is 167868.Status of the report is no_assertion_criteria_provided, 0 stars.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
COL8A2 | NM_005202.4 | c.1363_1364delinsGT | p.Gln455Val | missense_variant | 4/4 | ENST00000397799.2 | NP_005193.1 | |
COL8A2 | NM_001294347.2 | c.1168_1169delinsGT | p.Gln390Val | missense_variant | 4/4 | NP_001281276.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COL8A2 | ENST00000397799.2 | c.1363_1364delinsGT | p.Gln455Val | missense_variant | 4/4 | 5 | NM_005202.4 | ENSP00000380901 | P2 | |
COL8A2 | ENST00000481785.1 | c.1168_1169delinsGT | p.Gln390Val | missense_variant | 2/2 | 1 | ENSP00000436433 | A2 | ||
COL8A2 | ENST00000303143.9 | c.1363_1364delinsGT | p.Gln455Val | missense_variant | 2/2 | 2 | ENSP00000305913 | P2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 genomes
Cov.:
33
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome Cov.: 33
GnomAD4 genome
Cov.:
33
ClinVar
Significance: Pathogenic
Submissions summary: Pathogenic:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
Corneal dystrophy, Fuchs endothelial, 1 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Apr 01, 2009 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at