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NM_002834.5(PTPN11):c.412C>T (p.Arg138Ter) AND Metachondromatosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 17, 2010
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:
RCV000014276.26

Allele description [Variation Report for NM_002834.5(PTPN11):c.412C>T (p.Arg138Ter)]

NM_002834.5(PTPN11):c.412C>T (p.Arg138Ter)

Gene:
PTPN11:protein tyrosine phosphatase non-receptor type 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.13
Genomic location:
Preferred name:
NM_002834.5(PTPN11):c.412C>T (p.Arg138Ter)
HGVS:
  • NC_000012.12:g.112453274C>T
  • NG_007459.1:g.39543C>T
  • NM_001330437.2:c.412C>T
  • NM_001374625.1:c.409C>T
  • NM_002834.5:c.412C>TMANE SELECT
  • NM_080601.3:c.412C>T
  • NP_001317366.1:p.Arg138Ter
  • NP_001361554.1:p.Arg137Ter
  • NP_002825.3:p.Arg138Ter
  • NP_542168.1:p.Arg138Ter
  • LRG_614t1:c.412C>T
  • LRG_614:g.39543C>T
  • NC_000012.11:g.112891078C>T
  • NM_002834.3:c.412C>T
Protein change:
R137*; ARG138TER
Links:
OMIM: 176876.0026; dbSNP: rs267606989
NCBI 1000 Genomes Browser:
rs267606989
Molecular consequence:
  • NM_001330437.2:c.412C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374625.1:c.409C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_002834.5:c.412C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_080601.3:c.412C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Metachondromatosis (METCDS)
Identifiers:
MONDO: MONDO:0007979; MedGen: C0410530; Orphanet: 2499; OMIM: 156250

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034525OMIM
no assertion criteria provided
Pathogenic
(Jun 17, 2010) 		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

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.

Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, Goldstein DB.

PLoS Genet. 2010 Jun 17;6(6):e1000991. doi: 10.1371/journal.pgen.1000991.

PubMed [citation]
PMID:
20577567
PMCID:
PMC2887469

Details of each submission

From OMIM, SCV000034525.3

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

Description

In affected members of a 3-generation family segregating autosomal dominant metachondromatosis (METCDS; 156250), Sobreira et al. (2010) identified heterozygosity for a C-to-T transition in exon 4 of the PTPN11 gene, resulting in an arg138-to-ter (R138X) substitution. A brother and sister, both parents of affected children, were unaffected carriers of the mutation, indicating incomplete penetrance. The mutation was not found in 469 controls, 60% of whom were ethnically matched.

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

Last Updated: Sep 29, 2024