NM_000497.4(CYP11B1):c.954G>A (p.Thr318=) AND Deficiency of steroid 11-beta-monooxygenase

Clinical significance:Likely pathogenic (Last evaluated: May 30, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000667365.1

Allele description [Variation Report for NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)]

NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)

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.954G>A (p.Thr318=)
HGVS:
  • NC_000008.11:g.142876241C>T
  • NG_007954.1:g.8580G>A
  • NG_046132.1:g.2108C>T
  • NM_000497.3:c.954G>A
  • NM_000497.4:c.954G>AMANE SELECT
  • NM_001026213.1:c.954G>A
  • NP_000488.3:p.Thr318=
  • NP_000488.3:p.Thr318=
  • NP_001021384.1:p.Thr318=
  • NC_000008.10:g.143957657C>T
Links:
dbSNP: rs753774484
NCBI 1000 Genomes Browser:
rs753774484
Molecular consequence:
  • NM_000497.3:c.954G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_000497.4:c.954G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001026213.1:c.954G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Deficiency of steroid 11-beta-monooxygenase (CYP11B1)
Synonyms:
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY; 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008729; MedGen: C0268292; OMIM: 202010

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000791799Counsylno assertion criteria providedLikely pathogenic
(May 30, 2017)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency.

Kandemir N, Yilmaz DY, Gonc EN, Ozon A, Alikasifoglu A, Dursun A, Ozgul RK.

J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):57-63. doi: 10.1016/j.jsbmb.2016.03.006. Epub 2016 Mar 5.

PubMed [citation]
PMID:
26956189

Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene.

Skinner CA, Rumsby G, Honour JW.

J Clin Endocrinol Metab. 1996 Jun;81(6):2389-93.

PubMed [citation]
PMID:
8964882

Details of each submission

From Counsyl, SCV000791799.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2021

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