rs587778796
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_000784.4(CYP27A1):c.435G>A(p.Gly145=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000479 in 1,461,000 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. G145G) has been classified as Likely pathogenic.
Frequency
Consequence
NM_000784.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CYP27A1 | NM_000784.4 | c.435G>A | p.Gly145= | synonymous_variant | 2/9 | ENST00000258415.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYP27A1 | ENST00000258415.9 | c.435G>A | p.Gly145= | synonymous_variant | 2/9 | 1 | NM_000784.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250588Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135420
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461000Hom.: 0 Cov.: 32 AF XY: 0.00000688 AC XY: 5AN XY: 726644
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
Cholestanol storage disease Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 12, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at