2-218782191-GC-AA
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000784.4(CYP27A1):c.9_10delGCinsAA(p.Leu4Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYP27A1 | ENST00000258415.9 | c.9_10delGCinsAA | p.Leu4Met | missense_variant | 1 | NM_000784.4 | ENSP00000258415.4 | |||
CYP27A1 | ENST00000445971.1 | n.9_10delGCinsAA | non_coding_transcript_exon_variant | Exon 1 of 5 | 5 | ENSP00000404945.1 | ||||
CYP27A1 | ENST00000466602.1 | n.18_19delGCinsAA | non_coding_transcript_exon_variant | Exon 1 of 3 | 2 | |||||
CYP27A1 | ENST00000494263.5 | n.443_444delGCinsAA | non_coding_transcript_exon_variant | Exon 1 of 7 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Cholestanol storage disease Uncertain:1
This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 4 of the CYP27A1 protein (p.Leu4Met). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.