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NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 24, 2022
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:
RCV002496398.2

Allele description [Variation Report for NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile)]

NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile)

Genes:
LOC106799834:CYP11B2 recombination region [Gene]
CYP11B2:cytochrome P450 family 11 subfamily B member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile)
HGVS:
  • NC_000008.11:g.142915087G>A
  • NG_008374.1:g.7757C>T
  • NG_046133.1:g.11730G>A
  • NM_000498.3:c.554C>TMANE SELECT
  • NP_000489.3:p.Thr185Ile
  • NC_000008.10:g.143996503G>A
  • P19099:p.Thr185Ile
Protein change:
T185I; THR185ILE
Links:
UniProtKB: P19099#VAR_018471; OMIM: 124080.0007; dbSNP: rs121912978
NCBI 1000 Genomes Browser:
rs121912978
Molecular consequence:
  • NM_000498.3:c.554C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Corticosterone 18-monooxygenase deficiency
Synonyms:
ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE; ALDOSTERONE DEFICIENCY I; CMO I DEFICIENCY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008751; MedGen: C0268293; Orphanet: 427; OMIM: 203400
Name:
Corticosterone methyloxidase type 2 deficiency
Synonyms:
18-OXIDASE DEFICIENCY; ALDOSTERONE DEFICIENCY DUE TO DEFICIENCY OF STEROID 18-OXIDASE; ALDOSTERONE DEFICIENCY II; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012524; MedGen: C3463917; Orphanet: 427; OMIM: 610600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002809736Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 24, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002809736.1

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

Last Updated: May 19, 2024