NM_000196.4(HSD11B2):c.623G>A (p.Arg208His) AND Apparent mineralocorticoid excess

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Nov 22, 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:: RCV000012877.6

Allele description [Variation Report for NM_000196.4(HSD11B2):c.623G>A (p.Arg208His)]

NM_000196.4(HSD11B2):c.623G>A (p.Arg208His)

Gene:

HSD11B2:hydroxysteroid 11-beta dehydrogenase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

Preferred name:

NM_000196.4(HSD11B2):c.623G>A (p.Arg208His)

HGVS:

NC_000016.10:g.67436101G>A
NG_011482.1:g.50086C>T
NG_016549.1:g.9969G>A
NM_000196.4:c.623G>AMANE SELECT
NP_000187.3:p.Arg208His
NC_000016.9:g.67470004G>A
P80365:p.Arg208His

Protein change:

R208H; ARG208HIS

Links:

UniProtKB: P80365#VAR_015638; OMIM: 614232.0004; dbSNP: rs28934592

NCBI 1000 Genomes Browser:

rs28934592

Molecular consequence:

NM_000196.4:c.623G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Apparent mineralocorticoid excess (AME)
Synonyms:: Cortisol 11-beta-ketoreductase deficiency; AME 1
Identifiers:: MONDO: MONDO:0009025; MedGen: C0342488; Orphanet: 320; OMIM: 218030

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BioProject Links for Protein (Select 487657630) (1)
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BioProject Links for Protein (Select 490254417) (1)
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Nucleotide Links for Protein (Select 490306171) (1000)
Nucleotide
MULTISPECIES: hypothetical protein [Bacteria]
MULTISPECIES: hypothetical protein [Bacteria]
gi|501556622|ref|WP_012561126.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033118	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 1997)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV002779007	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 22, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000033118

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 1997)

germline

literature only

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

SCV002779007

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 22, 2021)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess.

Kitanaka S, Katsumata N, Tanae A, Hibi I, Takeyama K, Fuse H, Kato S, Tanaka T.

J Clin Endocrinol Metab. 1997 Dec;82(12):4054-8.

PubMed [citation]

PMID:: 9398712

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 OMIM, SCV000033118.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a Japanese patient with apparent mineralocorticoid excess (AME; 218030), Kitanaka et al. (1997) identified compound heterozygous mutations in the HSD11B2 gene: a G-to-A transition in exon 3, resulting in an arg208-to-his (R208H) substitution, and a 3-bp deletion in exon 5 (CGCTAT to CAT), resulting in an arg337-to-his substitution (R337H) and deletion of a tyr residue (del338). The latter mutation was shown to abolish HSD11B2 enzymatic activity.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Fulgent Genetics, Fulgent Genetics, SCV002779007.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 7, 2024

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