2-189110298-G-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_000393.5(COL5A2):c.249C>A(p.Ala83=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. 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. Synonymous variant affecting the same amino acid position (i.e. A83A) has been classified as Likely benign.
Frequency
Consequence
NM_000393.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL5A2 | NM_000393.5 | c.249C>A | p.Ala83= | synonymous_variant | 2/54 | ENST00000374866.9 | |
COL5A2 | XM_011510573.4 | c.111C>A | p.Ala37= | synonymous_variant | 5/57 | ||
COL5A2 | XM_047443251.1 | c.111C>A | p.Ala37= | synonymous_variant | 7/59 | ||
COL5A2 | XM_047443252.1 | c.111C>A | p.Ala37= | synonymous_variant | 6/58 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL5A2 | ENST00000374866.9 | c.249C>A | p.Ala83= | synonymous_variant | 2/54 | 1 | NM_000393.5 | P1 | |
COL5A2 | ENST00000649966.1 | c.111C>A | p.Ala37= | synonymous_variant | 2/11 | ||||
COL5A2 | ENST00000618828.1 | c.-382C>A | 5_prime_UTR_variant | 2/47 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at