PTEN:c.766G>T (p.Glu256Ter) AND Bannayan-Riley-Ruvalcaba syndrome

Clinical significance:Pathogenic (Last evaluated: Mar 1, 2013)

Review status:

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000008274.1

Allele description [Variation Report for PTEN:c.766G>T (p.Glu256Ter)]

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
PTEN:c.766G>T (p.Glu256Ter)
HGVS:
  • NC_000010.11:g.87957984G>T
  • NG_007466.2:g.99546G>T
  • NM_000314.4:c.766G>T
  • NP_000305.3:p.Glu256Ter
  • LRG_311t1:c.766G>T
  • LRG_311:g.99546G>T
  • LRG_311p1:p.Glu256Ter
  • NC_000010.10:g.89717741G>T
Protein change:
E256*; GLU256TER
Links:
OMIM: 601728.0016; dbSNP: 121909228
NCBI 1000 Genomes Browser:
rs121909228
Molecular consequence:
  • NM_000314.4:c.766G>T: nonsense [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Bannayan-Riley-Ruvalcaba syndrome (BRRS)
Synonyms:
MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA; Riley-Smith syndrome; Macrocephaly multiple lipomas and hemangiomata; See all synonyms [MedGen]
Identifiers:
MedGen: C0265326; OMIM: 153480; Orphanet: 109
Age of onset:
Neonatal/infancy

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000028481OMIMPathogenic
(Mar 1, 2013)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

Longy M, Coulon V, Duboué B, David A, Larrègue M, Eng C, Amati P, Kraimps JL, Bottani A, Lacombe D, Bonneau D.

J Med Genet. 1998 Nov;35(11):886-9.

PubMed [citation]
PMID:
9832032
PMCID:
PMC1051478

Details of each submission

From OMIM, SCV000028481.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 2-year-old child with macrocephaly, multiple lipomas, and hemangiomata (153480), Longy et al. (1998) identified a de novo 1570G-T transversion in exon 7 of the PTEN gene, resulting in a glu256-to-ter (E256X) substitution. The patient also had mild psychomotor retardation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 27, 2014

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