rs775180997
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PVS1PM2
The NM_000782.5(CYP24A1):āc.375C>Gā(p.Tyr125*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,668 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_000782.5 stop_gained
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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CYP24A1 | NM_000782.5 | c.375C>G | p.Tyr125* | stop_gained | 2/12 | ENST00000216862.8 | NP_000773.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYP24A1 | ENST00000216862.8 | c.375C>G | p.Tyr125* | stop_gained | 2/12 | 1 | NM_000782.5 | ENSP00000216862.3 | ||
CYP24A1 | ENST00000395955.7 | c.375C>G | p.Tyr125* | stop_gained | 2/11 | 1 | ENSP00000379285.3 | |||
CYP24A1 | ENST00000472970.1 | n.212C>G | non_coding_transcript_exon_variant | 2/2 | 3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250840Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135654
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460668Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726712
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at