NM_002834.5(PTPN11):c.458_463delinsAAGAACACAGGGGAGAGCA (p.Thr153fs) 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:: RCV000024256.26

Allele description [Variation Report for NM_002834.5(PTPN11):c.458_463delinsAAGAACACAGGGGAGAGCA (p.Thr153fs)]

NM_002834.5(PTPN11):c.458_463delinsAAGAACACAGGGGAGAGCA (p.Thr153fs)

Gene:

PTPN11:protein tyrosine phosphatase non-receptor type 11 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

12q24.13

Genomic location:

Preferred name:

NM_002834.5(PTPN11):c.458_463delinsAAGAACACAGGGGAGAGCA (p.Thr153fs)

HGVS:

NC_000012.12:g.112453320_112453325delinsAAGAACACAGGGGAGAGCA
NG_007459.1:g.39589_39594delinsAAGAACACAGGGGAGAGCA
NM_001330437.2:c.458_463delinsAAGAACACAGGGGAGAGCA
NM_001374625.1:c.455_460delinsAAGAACACAGGGGAGAGCA
NM_002834.5:c.458_463delinsAAGAACACAGGGGAGAGCAMANE SELECT
NM_080601.3:c.458_463delinsAAGAACACAGGGGAGAGCA
NP_001317366.1:p.Thr153fs
NP_001361554.1:p.Thr152fs
NP_002825.3:p.Thr153fs
NP_542168.1:p.Thr153fs
LRG_614:g.39589_39594delinsAAGAACACAGGGGAGAGCA
NC_000012.11:g.112891124_112891129delinsAAGAACACAGGGGAGAGCA
NC_000012.11:g.112891124_112891134delCTGGTGATGACinsAAGAACACAGGGGAGAGCAATGAC

Note:

NCBI staff reviewed the sequence information reported in PubMed 21533187 Table S1 to determine the location of this deletion on the current reference sequence, plus the sequence of the insertion.

Protein change:

T152fs

Links:

OMIM: 176876.0029; dbSNP: rs398122858

NCBI 1000 Genomes Browser:

rs398122858

Molecular consequence:

NM_001330437.2:c.458_463delinsAAGAACACAGGGGAGAGCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374625.1:c.455_460delinsAAGAACACAGGGGAGAGCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_002834.5:c.458_463delinsAAGAACACAGGGGAGAGCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_080601.3:c.458_463delinsAAGAACACAGGGGAGAGCA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000045547	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

SCV000045547

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, SCV000045547.2

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

Description

In 2 affected members of a family (family B) segregating metachondromatosis (METCDS; 156250), Bowen et al. (2011) identified a heterozygous complex deletion/insertion mutation in exon 4 of the PTPN11 gene (458_468del11ins24), resulting in a frameshift (Thr153LysfsTer8). The mutation was not found in an unaffected family member.

#	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

ClinVar

Relating variation to medicine