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NM_005154.3(USP8):c.[2138T>G;2150A>G]

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 18, 2014)
Last evaluated:
Nov 18, 2014
Accession:
VCV000161994.1
Variation ID:
161994
Description:
Haplotype
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NM_005154.3(USP8):c.[2138T>G;2150A>G]

Other names
-
Functional consequence
-
Links
ClinGen: CA049040
This haplotype includes the following variants
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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 Nov 18, 2014 RCV000149419.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
USP8 - - GRCh38
GRCh37
76 99

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 18, 2014)
no assertion criteria provided
Method: research
Pituitary dependent hypercortisolism
Allele origin: somatic
Institute of Human Genetics, Klinikum rechts der Isar
Accession: SCV000192010.1
Submitted: (Nov 18, 2014)
Comment:
gain of function
Evidence details

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 Feb 09, 2021