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NM_000196.4(HSD11B2):c.895_897del (p.Tyr299del)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
May 1, 2004
Accession:
VCV000012102.1
Variation ID:
12102
Description:
3bp deletion
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NM_000196.4(HSD11B2):c.895_897del (p.Tyr299del)

Allele ID
27141
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
16q22.1
Genomic location
16: 67436678-67436680 (GRCh38) GRCh38 UCSC
16: 67470581-67470583 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.67436680_67436682del
NC_000016.9:g.67470583_67470585del
NG_011482.1:g.49507_49509del
... more HGVS
Protein change
Y299del
Other names
-
Canonical SPDI
NC_000016.10:67436677:ACTAC:AC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA212941
OMIM: 614232.0010
dbSNP: rs794726670
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided May 1, 2004 RCV000012884.4
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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
Pathogenic
(May 01, 2004)
no assertion criteria provided
Method: literature only
APPARENT MINERALOCORTICOID EXCESS
Allele origin: germline
OMIM
Accession: SCV000033125.3
Submitted: (Dec 30, 2010)
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
In vitro expression studies of a novel mutation delta299 in a patient affected with apparent mineralocorticoid excess. Lin-Su K The Journal of clinical endocrinology and metabolism 2004 PMID: 15126515

Text-mined citations for rs794726670...

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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 Oct 16, 2021