chr2-189051388-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP2PP3
The NM_000393.5(COL5A2):c.2863G>T(p.Asp955Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic 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. D955N) 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 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL5A2 | NM_000393.5 | c.2863G>T | p.Asp955Tyr | missense_variant | 42/54 | ENST00000374866.9 | |
COL5A2 | XM_011510573.4 | c.2725G>T | p.Asp909Tyr | missense_variant | 45/57 | ||
COL5A2 | XM_047443251.1 | c.2725G>T | p.Asp909Tyr | missense_variant | 47/59 | ||
COL5A2 | XM_047443252.1 | c.2725G>T | p.Asp909Tyr | missense_variant | 46/58 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL5A2 | ENST00000374866.9 | c.2863G>T | p.Asp955Tyr | missense_variant | 42/54 | 1 | NM_000393.5 | P1 | |
COL5A2 | ENST00000618828.1 | c.1702G>T | p.Asp568Tyr | missense_variant | 35/47 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.