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NM_000500.9(CYP21A2):c.1024C>T (p.Arg342Trp) AND CYP21A2-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 16, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003978421.1

Allele description

NM_000500.9(CYP21A2):c.1024C>T (p.Arg342Trp)

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.1024C>T (p.Arg342Trp)
HGVS:
  • NC_000006.12:g.32040490C>T
  • NG_007941.3:g.7186C>T
  • NG_008337.2:g.73885G>A
  • NG_045215.1:g.2719C>T
  • NM_000500.7:c.1024C>T
  • NM_000500.9:c.1024C>TMANE SELECT
  • NM_001128590.4:c.934C>T
  • NM_001368143.2:c.619C>T
  • NM_001368144.2:c.619C>T
  • NP_000491.4:p.Arg342Trp
  • NP_001122062.3:p.Arg312Trp
  • NP_001355072.1:p.Arg207Trp
  • NP_001355073.1:p.Arg207Trp
  • LRG_829t1:c.1024C>T
  • LRG_829:g.7186C>T
  • LRG_829p1:p.Arg342Trp
  • NC_000006.11:g.32008267C>T
Protein change:
R207W
Links:
dbSNP: rs72552755
NCBI 1000 Genomes Browser:
rs72552755
Molecular consequence:
  • NM_000500.9:c.1024C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128590.4:c.934C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368143.2:c.619C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368144.2:c.619C>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
SCV004786935PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 16, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004786935.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The CYP21A2 c.1024C>T variant is predicted to result in the amino acid substitution p.Arg342Trp. Also known as R341W in the literature, this variant has been associated with autosomal recessive non-classic congenital adrenal hyperplasia (CAH) likely due to affected strength of P450 oxidoreductase (POR) interactions (see for example, Liu et al. 2018. PubMed ID: 29328376; Haider et al. 2013. PubMed ID: 23359706; Barbaro et al. 2015. PubMed ID: 24953648). This variant is interpreted as pathogenic.

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

Last Updated: Sep 29, 2024