X-108597387-G-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_033380.3(COL4A5):c.1598G>T(p.Gly533Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000913 in 109,519 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_033380.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COL4A5 | ENST00000328300.11 | c.1598G>T | p.Gly533Val | missense_variant | Exon 24 of 53 | 1 | NM_033380.3 | ENSP00000331902.7 | ||
COL4A5 | ENST00000483338.1 | c.422G>T | p.Gly141Val | missense_variant | Exon 8 of 20 | 1 | ENSP00000495685.1 | |||
COL4A5 | ENST00000361603.7 | c.1598G>T | p.Gly533Val | missense_variant | Exon 24 of 51 | 2 | ENSP00000354505.2 |
Frequencies
GnomAD3 genomes AF: 0.00000913 AC: 1AN: 109519Hom.: 0 Cov.: 21 AF XY: 0.00 AC XY: 0AN XY: 31907
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000913 AC: 1AN: 109519Hom.: 0 Cov.: 21 AF XY: 0.00 AC XY: 0AN XY: 31907
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at