rs6468
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP4
The NM_000500.9(CYP21A2):c.118C>G(p.Leu40Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L40L) has been classified as Benign.
Frequency
Consequence
NM_000500.9 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CYP21A2 | NM_000500.9 | c.118C>G | p.Leu40Val | missense_variant | 1/10 | ENST00000644719.2 | |
CYP21A2 | NM_001128590.4 | c.118C>G | p.Leu40Val | missense_variant | 1/9 | ||
CYP21A2 | NM_001368143.2 | c.-307C>G | 5_prime_UTR_variant | 1/10 | |||
CYP21A2 | NM_001368144.2 | c.-217C>G | 5_prime_UTR_variant | 1/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYP21A2 | ENST00000644719.2 | c.118C>G | p.Leu40Val | missense_variant | 1/10 | NM_000500.9 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 30
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000276 AC: 4AN: 1451672Hom.: 0 Cov.: 121 AF XY: 0.00000139 AC XY: 1AN XY: 721310
GnomAD4 genome ? Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at