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NM_001077197.1(PDE11A):c.169C>T (p.Arg57Ter) AND Pigmented nodular adrenocortical disease, primary, 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2006
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000005604.2

Allele description

NM_001077197.1(PDE11A):c.169C>T (p.Arg57Ter)

Gene:
PDE11A:phosphodiesterase 11A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001077197.1(PDE11A):c.169C>T (p.Arg57Ter)
HGVS:
  • NC_000002.12:g.178014454G>A
  • NG_012168.1:g.98886C>T
  • NM_001077197.1:c.169C>T
  • NP_001070665.1:p.Arg57Ter
  • NP_058649.3:p.Arg307Ter
  • NC_000002.11:g.178879181G>A
Protein change:
R307*; ARG307TER
Links:
OMIM: 604961.0001; dbSNP: rs76308115
GMAF:
0.0018(A), 76308115
NCBI 1000 Genomes Browser:
rs76308115
Allele Frequency:
0.00304(A), GO-ESP
Molecular consequence:
  • NM_001077197.1:c.169C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Pigmented nodular adrenocortical disease, primary, 2 (PPNAD2)
Synonyms:
CUSHING SYNDROME, ADRENAL, DUE TO PPNAD2; PIGMENTED MICRONODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2
Identifiers:
MedGen: C1864851; Orphanet: 189439; OMIM: 610475
Age of onset:
All ages
Prevalence:
<1 / 1 000 000 189439

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000025786OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2006) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.

Horvath A, Boikos S, Giatzakis C, Robinson-White A, Groussin L, Griffin KJ, Stein E, Levine E, Delimpasi G, Hsiao HP, Keil M, Heyerdahl S, Matyakhina L, Libè R, Fratticci A, Kirschner LS, Cramer K, Gaillard RC, Bertagna X, Carney JA, Bertherat J, Bossis I, et al.

Nat Genet. 2006 Jul;38(7):794-800. Epub 2006 Jun 11.

PubMed [citation]
PMID:
16767104

Details of each submission

From OMIM, SCV000025786.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a mother and daughter who presented at ages 23 and 19 years, respectively, with adrenal Cushing syndrome due to primary pigmented nodular adrenocortical disease-2 (610475), Horvath et al. (2006) identified a 919C-T transition in the PDE11A gene, resulting in an arg307-to-ter (R307X) substitution. Both patients were treated by bilateral adrenalectomy.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 6, 2016