13-110150331-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 4P and 1B. PM2PP5_ModerateBP4
The NM_001845.6(COL4A1):c.*32G>A 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 Likely 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>A | 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>A | 3_prime_UTR_variant | Exon 52 of 52 | 1 | NM_001845.6 | ENSP00000364979.4 | |||
COL4A1 | ENST00000650424 | c.*32G>A | 3_prime_UTR_variant | Exon 10 of 10 | ENSP00000497477.2 | |||||
COL4A1 | ENST00000649720.1 | n.1210G>A | 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
Brain small vessel disease 1 with or without ocular anomalies Pathogenic:1
A heterozygous 3’UTR variation in the COL4A1 gene was detected. The observed variation has previously been reported in patients affected with Pontine microangiopathy and leukoencephalopathy . This variant has not been reported in 1000 genomes and gnomAD databases and in our internal database. The in silico prediction# of the variant is damaging by MutationTaster2. The reference base is conserved across species. -
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Pathogenic:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.