1-228097859-C-G
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM1PM2PM5PP3_ModeratePP5_Moderate
The NM_001658.4(ARF1):c.392C>G(p.Pro131Arg) 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. P131L) has been classified as Likely pathogenic.
Frequency
Consequence
NM_001658.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARF1 | NM_001658.4 | c.392C>G | p.Pro131Arg | missense_variant | Exon 5 of 5 | ENST00000272102.10 | NP_001649.1 | |
ARF1 | NM_001024226.2 | c.392C>G | p.Pro131Arg | missense_variant | Exon 5 of 5 | NP_001019397.1 | ||
ARF1 | NM_001024227.1 | c.392C>G | p.Pro131Arg | missense_variant | Exon 5 of 5 | NP_001019398.1 | ||
ARF1 | NM_001024228.2 | c.392C>G | p.Pro131Arg | missense_variant | Exon 5 of 5 | NP_001019399.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Periventricular nodular heterotopia 8 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.