rs104886061
Variant summary
Our verdict is Pathogenic. Variant got 12 ACMG points: 12P and 0B. PM1PM2PM5PP3_StrongPP5_Moderate
The ENST00000328300.11(COL4A5):c.584G>A(p.Gly195Asp) 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. Variant has been reported in ClinVar as Pathogenic (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G195V) has been classified as Likely pathogenic.
Frequency
Consequence
ENST00000328300.11 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
COL4A5 | NM_033380.3 | c.584G>A | p.Gly195Asp | missense_variant | 10/53 | ENST00000328300.11 | NP_203699.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COL4A5 | ENST00000328300.11 | c.584G>A | p.Gly195Asp | missense_variant | 10/53 | 1 | NM_033380.3 | ENSP00000331902 | ||
COL4A5 | ENST00000361603.7 | c.584G>A | p.Gly195Asp | missense_variant | 10/51 | 2 | ENSP00000354505 | P1 |
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD4 exome Cov.: 25
GnomAD4 genome Cov.: 22
ClinVar
Submissions by phenotype
X-linked Alport syndrome Pathogenic:1
Pathogenic, criteria provided, single submitter | research | Precision Medicine Center, Zhengzhou University | - | PM1:Located in a mutational hot spot PM2:not found in gnomAD PM5: Novel missense change at an amino acid residue where a different missense change determined to be pathogenic has been seen before PP2:Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease PP3:Multiple lines of computational evidence support a deleterious effect on the gene or gene product - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at