X-108440157-GC-TT
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_033380.3(COL4A5):c.32_33delGCinsTT(p.Gly11Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_033380.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
COL4A5 | NM_033380.3 | c.32_33delGCinsTT | p.Gly11Val | missense_variant | ENST00000328300.11 | NP_203699.1 | ||
COL4A5 | NM_000495.5 | c.32_33delGCinsTT | p.Gly11Val | missense_variant | NP_000486.1 | |||
COL4A5 | XM_047441811.1 | c.32_33delGCinsTT | p.Gly11Val | missense_variant | XP_047297767.1 | |||
COL4A5 | XM_047441810.1 | c.-345_-344delGCinsTT | 5_prime_UTR_variant | Exon 1 of 54 | XP_047297766.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 20
GnomAD4 genome Cov.: 20
ClinVar
Submissions by phenotype
not provided Uncertain:2
This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 11 of the COL4A5 protein (p.Gly11Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with COL4A5-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
In silico analysis supports a deleterious effect on protein structure/function; 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.