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

Clinical significance:Pathogenic (Last evaluated: Nov 18, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000149419.1

Alleles description [Variation Report for NM_005154.3(USP8):c.[2138T>G;2150A>G]]

NM_005154.5(USP8):c.2138T>G (p.Leu713Arg)

Gene:
USP8:ubiquitin specific peptidase 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.2
Genomic location:
Preferred name:
NM_005154.5(USP8):c.2138T>G (p.Leu713Arg)
HGVS:
  • NC_000015.10:g.50490429T>G
  • NG_047101.1:g.71053T>G
  • NM_001128610.3:c.2138T>G
  • NM_001283049.2:c.1820T>G
  • NM_005154.5:c.2138T>GMANE SELECT
  • NP_001122082.1:p.Leu713Arg
  • NP_001269978.1:p.Leu607Arg
  • NP_005145.3:p.Leu713Arg
  • NC_000015.9:g.50782626T>G
  • NM_005154.3:c.2138T>G
Protein change:
L607R
Links:
dbSNP: rs672601309
NCBI 1000 Genomes Browser:
rs672601309
Molecular consequence:
  • NM_001128610.3:c.2138T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001283049.2:c.1820T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005154.5:c.2138T>G - missense variant - [Sequence Ontology: SO:0001583]

NM_005154.5(USP8):c.2150A>G (p.Tyr717Cys)

Gene:
USP8:ubiquitin specific peptidase 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.2
Genomic location:
Preferred name:
NM_005154.5(USP8):c.2150A>G (p.Tyr717Cys)
HGVS:
  • NC_000015.10:g.50490441A>G
  • NG_047101.1:g.71065A>G
  • NM_001128610.3:c.2150A>G
  • NM_001283049.2:c.1832A>G
  • NM_005154.5:c.2150A>GMANE SELECT
  • NP_001122082.1:p.Tyr717Cys
  • NP_001269978.1:p.Tyr611Cys
  • NP_005145.3:p.Tyr717Cys
  • NC_000015.9:g.50782638A>G
  • NM_005154.3:c.2150A>G
Protein change:
Y611C
Links:
dbSNP: rs672601310
NCBI 1000 Genomes Browser:
rs672601310
Molecular consequence:
  • NM_001128610.3:c.2150A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001283049.2:c.1832A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005154.5:c.2150A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pituitary dependent hypercortisolism (PITA4)
Synonyms:
CUSHING DISEASE, PITUITARY; Pituitary ACTH Hypersecretion; Pituitary adenoma, acth-secreting, somatic; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009050; MedGen: C0221406; Orphanet: 96253; OMIM: 219090

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000192010Institute of Human Genetics, Klinikum rechts der Isarno assertion criteria providedPathogenic
(Nov 18, 2014)
somaticresearch

Description

gain of function

SCV000192010

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiansomaticyes1not providednot providednot providednot providedresearch

Details of each submission

From Institute of Human Genetics, Klinikum rechts der Isar, SCV000192010.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 9, 2021

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