rs144282156
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM5
The NM_033380.3(COL4A5):c.4282C>A(p.Arg1428Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000009 in 111,085 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. 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. R1428C) has been classified as Likely benign.
Frequency
Consequence
NM_033380.3 missense
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL4A5 | NM_033380.3 | c.4282C>A | p.Arg1428Ser | missense_variant | 48/53 | ENST00000328300.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL4A5 | ENST00000328300.11 | c.4282C>A | p.Arg1428Ser | missense_variant | 48/53 | 1 | NM_033380.3 |
Frequencies
GnomAD3 genomes AF: 0.00000900 AC: 1AN: 111085Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33281
GnomAD3 exomes AF: 0.00000548 AC: 1AN: 182384Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67026
GnomAD4 exome Cov.: 30
GnomAD4 genome AF: 0.00000900 AC: 1AN: 111085Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33281
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Sep 01, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at