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NM_000196.4(HSD11B2):c.956_964dup (p.Val322_Asp323insAlaProVal)

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Oct 25, 2018)
Last evaluated:
Dec 30, 2017
Accession:
VCV000623311.1
Variation ID:
623311
Description:
9bp duplication
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NM_000196.4(HSD11B2):c.956_964dup (p.Val322_Asp323insAlaProVal)

Allele ID
612313
Variant type
Duplication
Variant length
9 bp
Cytogenetic location
16q22.1
Genomic location
16: 67436740-67436741 (GRCh38) GRCh38 UCSC
16: 67470643-67470644 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.67436741_67436749dup
NC_000016.9:g.67470644_67470652dup
NG_011482.1:g.49438_49446dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:67436740:CCCCAGTTG:CCCCAGTTGCCCCAGTTG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1567530910
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 no assertion criteria provided Dec 30, 2017 RCV000761443.1
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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
41 72

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 30, 2017)
no assertion criteria provided
Method: curation
Apparent mineralocorticoid excess
Allele origin: unknown
Department of Genetics,Sultan Qaboos University Hospital, Oman
Accession: SCV000891525.1
Submitted: (Oct 25, 2018)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population. Quinkler M Molecular and cellular endocrinology 2004 PMID: 15134813

Text-mined citations for rs1567530910...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021