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NM_000498.3(CYP11B2):c.282G>A (p.Pro94=) AND Corticosterone 18-monooxygenase deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 11, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001275483.1

Allele description [Variation Report for NM_000498.3(CYP11B2):c.282G>A (p.Pro94=)]

NM_000498.3(CYP11B2):c.282G>A (p.Pro94=)

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.282G>A (p.Pro94=)
HGVS:
  • NC_000008.11:g.142917172C>T
  • NG_008374.1:g.5672G>A
  • NG_046133.1:g.13815C>T
  • NM_000498.3:c.282G>AMANE SELECT
  • NP_000489.3:p.Pro94=
  • NC_000008.10:g.143998588C>T
Links:
dbSNP: rs141789054
NCBI 1000 Genomes Browser:
rs141789054
Molecular consequence:
  • NM_000498.3:c.282G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001460649Natera, Inc.
no assertion criteria provided
Uncertain significance
(Nov 11, 2019) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001460649.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2024