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NM_000196.4(HSD11B2):c.556C>T (p.Arg186Cys) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 20, 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:
RCV003041262.3

Allele description [Variation Report for NM_000196.4(HSD11B2):c.556C>T (p.Arg186Cys)]

NM_000196.4(HSD11B2):c.556C>T (p.Arg186Cys)

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.556C>T (p.Arg186Cys)
HGVS:
  • NC_000016.10:g.67436034C>T
  • NG_011482.1:g.50153G>A
  • NG_016549.1:g.9902C>T
  • NG_134076.1:g.649C>T
  • NM_000196.4:c.556C>TMANE SELECT
  • NP_000187.3:p.Arg186Cys
  • NC_000016.9:g.67469937C>T
Protein change:
R186C
Molecular consequence:
  • NM_000196.4:c.556C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003442004Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely pathogenic
(Dec 20, 2021) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Apparent mineralocorticoid excess: genotype is correlated with biochemical phenotype.

Mune T, White PC.

Hypertension. 1996 Jun;27(6):1193-9.

PubMed [citation]
PMID:
8641723

Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency.

Yau M, Haider S, Khattab A, Ling C, Mathew M, Zaidi S, Bloch M, Patel M, Ewert S, Abdullah W, Toygar A, Mudryi V, Al Badi M, Alzubdi M, Wilson RC, Al Azkawi HS, Ozdemir HN, Abu-Amer W, Hertecant J, Razzaghy-Azar M, Funder JW, Al Senani A, et al.

Proc Natl Acad Sci U S A. 2017 Dec 26;114(52):E11248-E11256. doi: 10.1073/pnas.1716621115. Epub 2017 Dec 11.

PubMed [citation]
PMID:
29229831
PMCID:
PMC5748222
See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003442004.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects HSD11B2 function (PMID: 8641723, 9661590, 29229831). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This missense change has been observed in individuals with apparent mineralocorticoid excess (PMID: 9661590, 19169481). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs768507002, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 186 of the HSD11B2 protein (p.Arg186Cys).

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

Last Updated: Sep 29, 2024