rs2762939
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000782.5(CYP24A1):c.733-149C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000754 in 1,326,612 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000782.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CYP24A1 | NM_000782.5 | c.733-149C>T | intron_variant | ENST00000216862.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYP24A1 | ENST00000216862.8 | c.733-149C>T | intron_variant | 1 | NM_000782.5 | P1 | |||
CYP24A1 | ENST00000395954.3 | c.307-149C>T | intron_variant | 1 | |||||
CYP24A1 | ENST00000395955.7 | c.733-149C>T | intron_variant | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome AF: 7.54e-7 AC: 1AN: 1326612Hom.: 0 AF XY: 0.00000152 AC XY: 1AN XY: 656824
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.