13-110150331-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 4P and 1B. PM2PP5_ModerateBP4
The NM_001845.6(COL4A1):c.*32G>T variant causes a 3 prime UTR change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Pathogenic (★).
Frequency
Consequence
NM_001845.6 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
COL4A1 | NM_001845.6 | c.*32G>T | 3_prime_UTR_variant | Exon 52 of 52 | ENST00000375820.10 | NP_001836.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COL4A1 | ENST00000375820 | c.*32G>T | 3_prime_UTR_variant | Exon 52 of 52 | 1 | NM_001845.6 | ENSP00000364979.4 | |||
COL4A1 | ENST00000650424 | c.*32G>T | 3_prime_UTR_variant | Exon 10 of 10 | ENSP00000497477.2 | |||||
COL4A1 | ENST00000649720.1 | n.1210G>T | non_coding_transcript_exon_variant | Exon 7 of 7 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 27
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Pathogenic:1
- -
not provided Pathogenic:1
This variant occurs in a non-coding region of the COL4A1 gene. It does not change the encoded amino acid sequence of the COL4A1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with cerebral small vessel disease (PMID: 27666438). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 689434). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects COL4A1 function (PMID: 27666438). For these reasons, this variant has been classified as Pathogenic. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at