NM_002834.5(PTPN11):c.295A>T (p.Lys99Ter) AND Metachondromatosis

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 2011
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:: RCV000024261.24

Allele description [Variation Report for NM_002834.5(PTPN11):c.295A>T (p.Lys99Ter)]

NM_002834.5(PTPN11):c.295A>T (p.Lys99Ter)

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.295A>T (p.Lys99Ter)

HGVS:

NC_000012.12:g.112450475A>T
NG_007459.1:g.36744A>T
NM_001330437.2:c.295A>T
NM_001374625.1:c.292A>T
NM_002834.5:c.295A>TMANE SELECT
NM_080601.3:c.295A>T
NP_001317366.1:p.Lys99Ter
NP_001361554.1:p.Lys98Ter
NP_002825.3:p.Lys99Ter
NP_542168.1:p.Lys99Ter
LRG_614:g.36744A>T
NC_000012.11:g.112888279A>T

Protein change:

K98*; LYS99TER

Links:

OMIM: 176876.0034; dbSNP: rs387907158

NCBI 1000 Genomes Browser:

rs387907158

Molecular consequence:

NM_001330437.2:c.295A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001374625.1:c.292A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_002834.5:c.295A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_080601.3:c.295A>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000045552	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 2011)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000045552

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 2011)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafé L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovée JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, et al.

PLoS Genet. 2011 Apr;7(4):e1002050. doi: 10.1371/journal.pgen.1002050. Epub 2011 Apr 14.

PubMed [citation]

PMID:: 21533187
PMCID:: PMC3077396

Details of each submission

From OMIM, SCV000045552.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In affected members of a family (family I) segregating metachondromatosis (METCDS; 156250), Bowen et al. (2011) identified a heterozygous 295A-T transversion in exon 3 of the PTPN11 gene, resulting in a lys99-to-ter (K99X) nonsense mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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