NM_000314.6(PTEN):c.389G>A (p.Arg130Gln) AND Cowden syndrome 1

Clinical significance:Pathogenic (Last evaluated: Apr 1, 2002)

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:
RCV000008275.2

Allele description [Variation Report for NM_000314.6(PTEN):c.389G>A (p.Arg130Gln)]

NM_000314.6(PTEN):c.389G>A (p.Arg130Gln)

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.6(PTEN):c.389G>A (p.Arg130Gln)
Other names:
p.R130Q:CGA>CAA
HGVS:
  • NC_000010.11:g.87933148G>A
  • NG_007466.2:g.74710G>A
  • NM_000314.6:c.389G>A
  • NM_001304718.1:c.-362G>A
  • NP_000305.3:p.Arg130Gln
  • LRG_311t1:c.389G>A
  • LRG_311:g.74710G>A
  • LRG_311p1:p.Arg130Gln
  • NC_000010.10:g.89692905G>A
  • NM_000314.4:c.389G>A
  • P60484:p.Arg130Gln
  • p.R130Q
Protein change:
R130Q; ARG130GLN
Links:
UniProtKB: P60484#VAR_007468; OMIM: 601728.0017; dbSNP: 121909229
NCBI 1000 Genomes Browser:
rs121909229
Molecular consequence:
  • NM_001304718.1:c.-362G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000314.6:c.389G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cowden syndrome 1 (CWS1)
Synonyms:
Lhermitte-Duclos Disease; COWDEN DISEASE 1
Identifiers:
MedGen: CN072330; OMIM: 158350

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000028482OMIMno assertion criteria providedPathogenic
(Apr 1, 2002)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene.

Kurose K, Araki T, Matsunaka T, Takada Y, Emi M.

Am J Hum Genet. 1999 Jan;64(1):308-10. No abstract available.

PubMed [citation]
PMID:
9915974
PMCID:
PMC1377733

Protean PTEN: form and function.

Waite KA, Eng C.

Am J Hum Genet. 2002 Apr;70(4):829-44. Epub 2002 Mar 1. Review.

PubMed [citation]
PMID:
11875759
PMCID:
PMC379112

Details of each submission

From OMIM, SCV000028482.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Kurose et al. (1999) described a heterozygous G-to-A transition at the second nucleotide of codon 130 of the PTEN gene, predicted to result in an arg130-to-gln (R130Q) substitution, in a 35-year-old Japanese man who had been followed clinically for presumed JPS (174900) because of numerous hamartomatous polypoid lesions throughout the digestive tract, from esophagus to rectum. On further examination, he was found to have a small thyroid adenoma and a few papillomatous papules on his right hand, as well as a lung tumor which had not been fully characterized at the time of report. Waite and Eng (2002) classified this patient as a case of Cowden disease (158350) and referred to the patient's 'classic cutaneous features.'

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

Last Updated: Sep 15, 2017