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NM_000500.9(CYP21A2):c.1201A>G (p.Arg401Gly) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 24, 2019
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:
RCV000984576.2

Allele description [Variation Report for NM_000500.9(CYP21A2):c.1201A>G (p.Arg401Gly)]

NM_000500.9(CYP21A2):c.1201A>G (p.Arg401Gly)

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.1201A>G (p.Arg401Gly)
HGVS:
  • NC_000006.12:g.32040750A>G
  • NG_007941.3:g.7446A>G
  • NG_008337.2:g.73625T>C
  • NG_045215.1:g.2979A>G
  • NM_000500.9:c.1201A>GMANE SELECT
  • NM_001128590.4:c.1111A>G
  • NM_001368143.2:c.796A>G
  • NM_001368144.2:c.796A>G
  • NP_000491.4:p.Arg401Gly
  • NP_001122062.3:p.Arg371Gly
  • NP_001355072.1:p.Arg266Gly
  • NP_001355073.1:p.Arg266Gly
  • LRG_829t1:c.1201A>G
  • LRG_829:g.7446A>G
  • LRG_829p1:p.Arg401Gly
  • NC_000006.11:g.32008527A>G
  • NM_000500.7:c.1201A>G
Protein change:
R266G
Links:
dbSNP: rs1451687726
NCBI 1000 Genomes Browser:
rs1451687726
Molecular consequence:
  • NM_000500.9:c.1201A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128590.4:c.1111A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368143.2:c.796A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368144.2:c.796A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001132634Institute of Human Genetics, Medical University Innsbruck
no assertion criteria provided
Uncertain significance
(May 24, 2019) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics, Medical University Innsbruck, SCV001132634.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 11, 2023