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NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) AND CYP21A2-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 11, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003407320.5

Allele description [Variation Report for NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)]

NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)

Genes:
LOC106780800:CYP21A2 recombination region [Gene]
CYP21A2:cytochrome P450 family 21 subfamily A member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
Other names:
V281L; CYP21A2*15
HGVS:
  • NC_000006.12:g.32040110G>T
  • NG_007941.3:g.6806G>T
  • NG_008337.2:g.74265C>A
  • NG_045215.1:g.2339G>T
  • NM_000500.9:c.844G>TMANE SELECT
  • NM_001128590.4:c.754G>T
  • NM_001368143.2:c.439G>T
  • NM_001368144.2:c.439G>T
  • NP_000491.4:p.Val282Leu
  • NP_001122062.3:p.Val252Leu
  • NP_001355072.1:p.Val147Leu
  • NP_001355073.1:p.Val147Leu
  • LRG_829t1:c.844G>T
  • LRG_829:g.6806G>T
  • LRG_829p1:p.Val282Leu
  • NC_000006.11:g.32007887G>T
  • NM_000500.5:c.844G>T
  • NM_000500.7:c.844G>T
  • p.Val282Leu
Protein change:
V147L; VAL281LEU
Links:
OMIM: 613815.0002; OMIM: 613815.0033; dbSNP: rs6471
NCBI 1000 Genomes Browser:
rs6471
Molecular consequence:
  • NM_000500.9:c.844G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128590.4:c.754G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368143.2:c.439G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368144.2:c.439G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CYP21A2-related disorder
Synonyms:
CYP21A2-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004114182PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Jul 11, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004114182.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The CYP21A2 c.844G>T variant is predicted to result in the amino acid substitution p.Val282Leu. This is a common deleterious variant, which likely originated from the pseudogene CYP21A1P via gene conversion. This variant is a mild allele associated with non-classic congenital adrenal hyperplasia (CAH) (also known as V281L; see for example at New et al. 2013. PubMed ID: 23359698; Finkielstain et al. 2011. PubMed ID: 20926536). This variant is interpreted as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024