2-189098740-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP2BP4
The NM_000393.5(COL5A2):c.389G>C(p.Arg130Pro) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts 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. R130C) has been classified as Uncertain significance.
Frequency
Consequence
NM_000393.5 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 | UniProt |
---|---|---|---|---|---|---|---|
COL5A2 | NM_000393.5 | c.389G>C | p.Arg130Pro | missense_variant | 5/54 | ENST00000374866.9 | |
COL5A2 | XM_011510573.4 | c.251G>C | p.Arg84Pro | missense_variant | 8/57 | ||
COL5A2 | XM_047443251.1 | c.251G>C | p.Arg84Pro | missense_variant | 10/59 | ||
COL5A2 | XM_047443252.1 | c.251G>C | p.Arg84Pro | missense_variant | 9/58 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL5A2 | ENST00000374866.9 | c.389G>C | p.Arg130Pro | missense_variant | 5/54 | 1 | NM_000393.5 | P1 | |
COL5A2 | ENST00000649966.1 | c.251G>C | p.Arg84Pro | missense_variant | 5/11 | ||||
COL5A2 | ENST00000618828.1 | c.-242G>C | 5_prime_UTR_variant | 5/47 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 29
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at