rs184649564
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 6P and 2B. PM1PM2PM5BP4_Moderate
The NM_000500.9(CYP21A2):c.1439G>A(p.Arg480Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000014 in 1,572,416 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R480L) has been classified as Likely benign.
Frequency
Consequence
NM_000500.9 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CYP21A2 | NM_000500.9 | c.1439G>A | p.Arg480Gln | missense_variant | 10/10 | ENST00000644719.2 | |
CYP21A2 | NM_001128590.4 | c.1349G>A | p.Arg450Gln | missense_variant | 9/9 | ||
CYP21A2 | NM_001368143.2 | c.1034G>A | p.Arg345Gln | missense_variant | 10/10 | ||
CYP21A2 | NM_001368144.2 | c.1034G>A | p.Arg345Gln | missense_variant | 9/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYP21A2 | ENST00000644719.2 | c.1439G>A | p.Arg480Gln | missense_variant | 10/10 | NM_000500.9 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151614Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000188 AC: 4AN: 213178Hom.: 0 AF XY: 0.0000257 AC XY: 3AN XY: 116676
GnomAD4 exome AF: 0.0000134 AC: 19AN: 1420684Hom.: 0 Cov.: 32 AF XY: 0.0000113 AC XY: 8AN XY: 706112
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151732Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74158
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at