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NM_005525.4(HSD11B1):c.332-29T>G AND Cortisone reductase deficiency 2

Germline classification:
Benign (1 submission)
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:
RCV001258229.10

Allele description [Variation Report for NM_005525.4(HSD11B1):c.332-29T>G]

NM_005525.4(HSD11B1):c.332-29T>G

Genes:
HSD11B1-AS1:HSD11B1 antisense RNA 1 [Gene - HGNC]
HSD11B1:hydroxysteroid 11-beta dehydrogenase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.2
Genomic location:
Preferred name:
NM_005525.4(HSD11B1):c.332-29T>G
Other names:
HSD11B1, 83597T-G
HGVS:
  • NC_000001.11:g.209706914T>G
  • NG_012081.1:g.25710T>G
  • NM_001206741.2:c.332-29T>G
  • NM_005525.4:c.332-29T>GMANE SELECT
  • NM_181755.3:c.332-29T>G
  • NC_000001.10:g.209880259T>G
  • NM_005525.3:c.332-29T>G
Links:
OMIM: 600713.0001; dbSNP: rs12086634
NCBI 1000 Genomes Browser:
rs12086634
Molecular consequence:
  • NM_001206741.2:c.332-29T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005525.4:c.332-29T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181755.3:c.332-29T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cortisone reductase deficiency 2 (CORTRD2)
Identifiers:
MONDO: MONDO:0013842; MedGen: C3553382; Orphanet: 168588; OMIM: 614662

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001435135Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benigngermlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, SCV001435135.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

The heterozygous c.331+94T>G variant in HSD11B1 has been identified in 3 individuals with cortisone reductase deficiency (PMID: 12858176). This variant is classified as benign for cortisone reductase deficiency because it has been identified in >25% of European (Finnish) chromosomes and 2719 total homozygotes by ExAC (http://gnomad.broadinstitute.org/).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024