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NM_000500.9(CYP21A2):c.274A>G (p.Arg92Gly) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 15, 2017
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:
RCV000517012.3

Allele description [Variation Report for NM_000500.9(CYP21A2):c.274A>G (p.Arg92Gly)]

NM_000500.9(CYP21A2):c.274A>G (p.Arg92Gly)

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.274A>G (p.Arg92Gly)
HGVS:
  • NC_000006.12:g.32038793A>G
  • NG_007941.3:g.5489A>G
  • NG_045215.1:g.1022A>G
  • NM_000500.9:c.274A>GMANE SELECT
  • NM_001128590.4:c.202+169A>G
  • NM_001368143.2:c.-151A>G
  • NM_001368144.2:c.-133+169A>G
  • NP_000491.4:p.Arg92Gly
  • LRG_829t1:c.274A>G
  • LRG_829:g.5489A>G
  • LRG_829p1:p.Arg92Gly
  • NC_000006.11:g.32006570A>G
  • NM_000500.7:c.274A>G
Protein change:
R92G
Links:
dbSNP: rs1554304513
NCBI 1000 Genomes Browser:
rs1554304513
Molecular consequence:
  • NM_001368143.2:c.-151A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001128590.4:c.202+169A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368144.2:c.-133+169A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000500.9:c.274A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Synonyms:
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency; CYP21 deficiency; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Identifiers:
MONDO: MONDO:0008728; MedGen: C2936858; Orphanet: 90794; OMIM: 201910

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000616347GenePathDx, GenePath diagnostics
criteria provided, single submitter

(GenePathDx_Criteria_classificationV2)		Likely pathogenic
(Jun 15, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Indiangermlineyes11not providednot providednot providedclinical testing

Details of each submission

From GenePathDx, GenePath diagnostics, SCV000616347.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided

Last Updated: Dec 11, 2022