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NM_000196.4(HSD11B2):c.1010G>T (p.Arg337Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 21, 2021)
Last evaluated:
Jul 15, 2019
Accession:
VCV001028126.1
Variation ID:
1028126
Description:
single nucleotide variant
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NM_000196.4(HSD11B2):c.1010G>T (p.Arg337Leu)

Allele ID
1018126
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q22.1
Genomic location
16: 67436795 (GRCh38) GRCh38 UCSC
16: 67470698 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.67436795G>T
NC_000016.9:g.67470698G>T
NG_011482.1:g.49392C>A
... more HGVS
Protein change
R337L
Other names
-
Canonical SPDI
NC_000016.10:67436794:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jul 15, 2019 RCV001329093.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HSD11B2 - - GRCh38
GRCh37
40 71

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 15, 2019)
criteria provided, single submitter
Method: clinical testing
Apparent mineralocorticoid excess
Allele origin: unknown
Baylor Genetics
Accession: SCV001520411.1
Submitted: (Feb 21, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021