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NM_000196.4(HSD11B2):c.983C>T (p.Ala328Val)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2020)
Last evaluated:
Feb 1, 2020
Accession:
VCV000974391.1
Variation ID:
974391
Description:
single nucleotide variant
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NM_000196.4(HSD11B2):c.983C>T (p.Ala328Val)

Allele ID
962790
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q22.1
Genomic location
16: 67436768 (GRCh38) GRCh38 UCSC
16: 67470671 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.67436768C>T
NC_000016.9:g.67470671C>T
NG_011482.1:g.49419G>A
... more HGVS
Protein change
A328V
Other names
-
Canonical SPDI
NC_000016.10:67436767:C: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
Likely pathogenic 1 criteria provided, single submitter Feb 1, 2020 RCV001281140.1
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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
Likely pathogenic
(Feb 01, 2020)
criteria provided, single submitter
Method: research
Apparent mineralocorticoid excess
Allele origin: germline
Molecular Biology Laboratory, FundaciĆ³ Puigvert
Study: KidneyPanel_2020
Accession: SCV001425096.1
Submitted: (Jul 10, 2020)
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
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. Domingo-Gallego A Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2021 PMID: 33532864

Record last updated Oct 08, 2021