rs1412048304
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM1PP3_Strong
The NM_000497.4(CYP11B1):c.1145T>G(p.Leu382Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000123 in 1,461,296 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. L382L) has been classified as Likely benign.
Frequency
Consequence
NM_000497.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CYP11B1 | NM_000497.4 | c.1145T>G | p.Leu382Arg | missense_variant | 7/9 | ENST00000292427.10 | |
CYP11B1 | NM_001026213.1 | c.1145T>G | p.Leu382Arg | missense_variant | 7/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYP11B1 | ENST00000292427.10 | c.1145T>G | p.Leu382Arg | missense_variant | 7/9 | 1 | NM_000497.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000798 AC: 2AN: 250738Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135580
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461296Hom.: 0 Cov.: 35 AF XY: 0.0000110 AC XY: 8AN XY: 726944
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Deficiency of steroid 11-beta-monooxygenase Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Counsyl | Mar 27, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at