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NM_000500.9(CYP21A2):c.833dup (p.Glu279fs) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 18, 2021
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:
RCV001449920.1

Allele description [Variation Report for NM_000500.9(CYP21A2):c.833dup (p.Glu279fs)]

NM_000500.9(CYP21A2):c.833dup (p.Glu279fs)

Genes:
LOC106780800:CYP21A2 recombination region [Gene]
CYP21A2:cytochrome P450 family 21 subfamily A member 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_000500.9(CYP21A2):c.833dup (p.Glu279fs)
HGVS:
  • NC_000006.12:g.32040099dup
  • NG_007941.3:g.6795dup
  • NG_008337.2:g.74276dup
  • NG_045215.1:g.2328dup
  • NM_000500.9:c.833dupMANE SELECT
  • NM_001128590.4:c.743dup
  • NM_001368143.2:c.428dup
  • NM_001368144.2:c.428dup
  • NP_000491.4:p.Glu279fs
  • NP_001122062.3:p.Glu249fs
  • NP_001355072.1:p.Glu144fs
  • NP_001355073.1:p.Glu144fs
  • LRG_829t1:c.833dup
  • LRG_829:g.6795dup
  • LRG_829p1:p.Glu279fs
  • NC_000006.11:g.32007876dup
  • NM_000500.9:c.833dupTMANE SELECT
Protein change:
E144fs
Links:
dbSNP: rs2151874375
NCBI 1000 Genomes Browser:
rs2151874375
Molecular consequence:
  • NM_000500.9:c.833dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001128590.4:c.743dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368143.2:c.428dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368144.2:c.428dup - frameshift variant - [Sequence Ontology: SO:0001589]
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
SCV001623017Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University
no assertion criteria provided
Pathogenic
(May 18, 2021) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asianunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, SCV001623017.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asian1not providednot providedclinical testingnot provided

Description

The c.833dupT variant in CYP21A2 was discovered in 1 chinese CAH patient with p.I173N on the other allel presenting as SV CAH.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023