NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Nov 18, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001570971.3

Allele description [Variation Report for NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp)]

NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp)

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.266G>A (p.Gly89Asp)
HGVS:
  • NC_000016.10:g.67435628G>A
  • NG_016549.1:g.9496G>A
  • NM_000196.4:c.266G>AMANE SELECT
  • NP_000187.3:p.Gly89Asp
  • NC_000016.9:g.67469531G>A
  • NM_000196.3:c.266G>A
  • p.GLY89ASP
Protein change:
G89D
Links:
dbSNP: rs1555518481
NCBI 1000 Genomes Browser:
rs1555518481
Molecular consequence:
  • NM_000196.4:c.266G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001795349GeneDxcriteria provided, single submitter
Uncertain significance
(Nov 18, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001795349.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Observed in an unrelated patient with mineralocorticoid excess in published literature; no detailed information available (Rodriguez-Flores et al., 2014); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; In-silico analysis using splice predictors is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 24123366, 25593612, 29229831)

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

Last Updated: Oct 16, 2021

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