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NM_000500.9(CYP21A2):c.342C>T (p.Ser114=) AND Congenital adrenal hyperplasia

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 18, 2011
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:
RCV000029653.10

Allele description [Variation Report for NM_000500.9(CYP21A2):c.342C>T (p.Ser114=)]

NM_000500.9(CYP21A2):c.342C>T (p.Ser114=)

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.342C>T (p.Ser114=)
HGVS:
  • NC_000006.12:g.32039143C>T
  • NG_007941.3:g.5839C>T
  • NG_045215.1:g.1372C>T
  • NM_000500.9:c.342C>TMANE SELECT
  • NM_001128590.4:c.252C>T
  • NM_001368143.2:c.-64C>T
  • NM_001368144.2:c.-64C>T
  • NP_000491.4:p.Ser114=
  • NP_001122062.3:p.Ser84=
  • LRG_829t1:c.342C>T
  • LRG_829:g.5839C>T
  • LRG_829p1:p.Ser114=
  • NC_000006.11:g.32006920C>T
  • NM_000500.6:c.339C>T
  • NM_000500.7:c.342C>T
Links:
dbSNP: rs193922546
NCBI 1000 Genomes Browser:
rs193922546
Molecular consequence:
  • NM_001368143.2:c.-64C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368144.2:c.-64C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000500.9:c.342C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128590.4:c.252C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

Condition(s)

Name:
Congenital adrenal hyperplasia (CAH)
Identifiers:
MONDO: MONDO:0018479; MedGen: C0001627; Human Phenotype Ontology: HP:0008258

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000052305Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		likely benign
(Aug 18, 2011) 		germlinecuration, clinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

Mutation of IVS2 -12A/C>G in combination with 707-714delGAGACTAC in the CYP21 gene is caused by deletion of the C4-CYP21 repeat module with steroid 21-hydroxylase deficiency.

Lee HH, Chang SF, Tsai FJ, Tsai LP, Lin CY.

J Clin Endocrinol Metab. 2003 Jun;88(6):2726-9.

PubMed [citation]
PMID:
12788880

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052305.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
2not providednot providednot providednot providedclinical testing PubMed (1)
3not providednot providednot providednot providedclinical testing PubMed (1)

Description

Converted during submission to Likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2
3germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 3

Co-occurrences

#ZygosityAllelesNumber of Observations
2SingleHeterozygoteCYP21A2:c.332_339delGAGACTAC, CYP21A2:c.293-13C>A, CYP21A2:c.138C>A, CYP21A2:c.118C>T, CYP21A2:c.29_31delTGC, CYP21A2:c.292+9C>T, CYP21A2:c.327C>G, CYP21A2:c.308G>A, CYP21A2:c.518T>A1
3HomozygoteCYP21A2:c.293-13C>A, CYP21A2:c.1481G>A, CYP21A2:c.1473G>A, CYP21A2:c.138C>A, CYP21A2:c.118C>T, CYP21A2:c.1125C>T, CYP21A2:c.308G>A, CYP21A2:c.29_31delTGC, CYP21A2:c.292+9C>T, CYP21A2:c.327C>G, CYP21A2:c.332_339delGAGACTAC1

Last Updated: Oct 8, 2024