NM_001846.4:c.551G>T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001846.4(COL4A2):c.551G>T(p.Gly184Val) variant causes a missense, splice region change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G184D) has been classified as Uncertain significance.
Frequency
Consequence
NM_001846.4 missense, splice_region
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
COL4A2 | NM_001846.4 | c.551G>T | p.Gly184Val | missense_variant, splice_region_variant | Exon 9 of 48 | ENST00000360467.7 | NP_001837.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COL4A2 | ENST00000360467.7 | c.551G>T | p.Gly184Val | missense_variant, splice_region_variant | Exon 9 of 48 | 5 | NM_001846.4 | ENSP00000353654.5 | ||
COL4A2 | ENST00000650540.1 | c.551G>T | p.Gly184Val | missense_variant, splice_region_variant | Exon 9 of 18 | ENSP00000497878.1 | ||||
COL4A2 | ENST00000462309.2 | n.352G>T | non_coding_transcript_exon_variant | Exon 1 of 2 | 3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Uncertain:1
Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.