NM_000314.6(PTEN):c.370T>C (p.Cys124Arg) AND Cowden syndrome 1

Clinical significance:Pathogenic (Last evaluated: Aug 1, 1997)

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:
RCV000008261.3

Allele description [Variation Report for NM_000314.6(PTEN):c.370T>C (p.Cys124Arg)]

NM_000314.6(PTEN):c.370T>C (p.Cys124Arg)

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.370T>C (p.Cys124Arg)
HGVS:
  • NC_000010.11:g.87933129T>C
  • NG_007466.2:g.74691T>C
  • NM_000314.6:c.370T>C
  • NM_001304718.1:c.-381T>C
  • NP_000305.3:p.Cys124Arg
  • LRG_311t1:c.370T>C
  • LRG_311:g.74691T>C
  • LRG_311p1:p.Cys124Arg
  • NC_000010.10:g.89692886T>C
  • NM_000314.4:c.370T>C
  • P60484:p.Cys124Arg
Protein change:
C124R; CYS124ARG
Links:
UniProtKB: P60484#VAR_007464; OMIM: 601728.0006; dbSNP: 121909223
NCBI 1000 Genomes Browser:
rs121909223
Molecular consequence:
  • NM_001304718.1:c.-381T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000314.6:c.370T>C - 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
Prevalence:
1 in 200,000 https://www.ncbi.nlm.nih.gov/books/NBK1488

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000028468OMIMno assertion criteria providedPathogenic
(Aug 1, 1997)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.

Nelen MR, van Staveren WC, Peeters EA, Hassel MB, Gorlin RJ, Hamm H, Lindboe CF, Fryns JP, Sijmons RH, Woods DG, Mariman EC, Padberg GW, Kremer H.

Hum Mol Genet. 1997 Aug;6(8):1383-7.

PubMed [citation]
PMID:
9259288

Details of each submission

From OMIM, SCV000028468.2

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

Description

See Nelen et al. (1997) and 601728.0005.

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

Last Updated: Jun 30, 2017