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NM_000497.4(CYP11B1):c.799+5G>C AND Congenital adrenal hyperplasia

Germline classification:
Uncertain significance (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:
RCV000029649.2

Allele description [Variation Report for NM_000497.4(CYP11B1):c.799+5G>C]

NM_000497.4(CYP11B1):c.799+5G>C

Genes:
LOC106799833:CYP11B1 recombination region [Gene]
CYP11B1:cytochrome P450 family 11 subfamily B member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_000497.4(CYP11B1):c.799+5G>C
HGVS:
  • NC_000008.11:g.142876677C>G
  • NG_007954.1:g.8144G>C
  • NG_046132.1:g.2544C>G
  • NM_000497.4:c.799+5G>CMANE SELECT
  • NM_001026213.1:c.799+5G>C
  • NC_000008.10:g.143958093C>G
  • NM_000497.3:c.799+5G>C
Links:
dbSNP: rs193922542
NCBI 1000 Genomes Browser:
rs193922542
Molecular consequence:
  • NM_000497.4:c.799+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001026213.1:c.799+5G>C - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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
SCV000052301Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		uncertain
(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 provided1not providedcuration
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Congenital adrenal hyperplasia in a Nigerian child with a novel compound heterozygote mutation in CYP11B1.

Andrew M, Barr M, Davies E, Wallace AM, Connell JM, Ahmed SF.

Clin Endocrinol (Oxf). 2007 Apr;66(4):602-3. No abstract available.

PubMed [citation]
PMID:
17371482

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052301.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (1)
2not providednot providednot providednot providedclinical testing PubMed (1)

Description

"c.799+5G>C on paternal allele; c.1066C>T on maternal allele which is scored as DV in GE."

PubMed [ID: 17371482]

Description

Converted during submission to Uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2

Co-occurrences

#ZygosityAllelesNumber of Observations
2SingleHeterozygoteCYP11B1:c.825T>C, CYP11B1:c.800-14C>T, CYP11B1:c.124C>T1

Last Updated: Oct 13, 2024