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NM_000498.3(CYP11B2):c.799+140C>T AND Corticosterone 18-monooxygenase deficiency

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 1, 2021
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:
RCV001532766.2

Allele description [Variation Report for NM_000498.3(CYP11B2):c.799+140C>T]

NM_000498.3(CYP11B2):c.799+140C>T

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.799+140C>T
HGVS:
  • NC_000008.11:g.142914565G>A
  • NG_008374.1:g.8279C>T
  • NG_046133.1:g.11208G>A
  • NM_000498.3:c.799+140C>TMANE SELECT
  • NC_000008.10:g.143995981G>A
Links:
dbSNP: rs28531895
NCBI 1000 Genomes Browser:
rs28531895
Molecular consequence:
  • NM_000498.3:c.799+140C>T - intron variant - [Sequence Ontology: SO:0001627]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001748467Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 1, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV001748467.1

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

Last Updated: Apr 6, 2024