2-189045226-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_000393.5(COL5A2):c.3316C>G(p.Arg1106Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000688 in 1,453,820 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R1106W) has been classified as Likely benign.
Frequency
Consequence
NM_000393.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL5A2 | NM_000393.5 | c.3316C>G | p.Arg1106Gly | missense_variant | 47/54 | ENST00000374866.9 | |
COL5A2 | XM_011510573.4 | c.3178C>G | p.Arg1060Gly | missense_variant | 50/57 | ||
COL5A2 | XM_047443251.1 | c.3178C>G | p.Arg1060Gly | missense_variant | 52/59 | ||
COL5A2 | XM_047443252.1 | c.3178C>G | p.Arg1060Gly | missense_variant | 51/58 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL5A2 | ENST00000374866.9 | c.3316C>G | p.Arg1106Gly | missense_variant | 47/54 | 1 | NM_000393.5 | P1 | |
COL5A2 | ENST00000618828.1 | c.2155C>G | p.Arg719Gly | missense_variant | 40/47 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000405 AC: 1AN: 246710Hom.: 0 AF XY: 0.00000747 AC XY: 1AN XY: 133956
GnomAD4 exome AF: 6.88e-7 AC: 1AN: 1453820Hom.: 0 Cov.: 29 AF XY: 0.00000138 AC XY: 1AN XY: 723406
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at