2-218814064-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PP3_ModeratePP5
The NM_000784.4(CYP27A1):c.1061A>G(p.Asp354Gly) variant causes a missense change involving the alteration of a non-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 (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D354N) has been classified as Uncertain significance.
Frequency
Consequence
NM_000784.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CYP27A1 | NM_000784.4 | c.1061A>G | p.Asp354Gly | missense_variant | 6/9 | ENST00000258415.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYP27A1 | ENST00000258415.9 | c.1061A>G | p.Asp354Gly | missense_variant | 6/9 | 1 | NM_000784.4 | P1 | |
CYP27A1 | ENST00000466602.1 | n.1183A>G | non_coding_transcript_exon_variant | 3/3 | 2 | ||||
CYP27A1 | ENST00000494263.5 | n.1495A>G | non_coding_transcript_exon_variant | 6/7 | 2 | ||||
CYP27A1 | ENST00000445971.1 | c.*522A>G | 3_prime_UTR_variant, NMD_transcript_variant | 5/5 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Cholestanol storage disease Pathogenic:1
Pathogenic, no assertion criteria provided | curation | GeneReviews | Aug 01, 2013 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at