NM_002834.5(PTPN11):c.179_182delinsT (p.Gly60_Asp61delinsVal) AND RASopathy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2006
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000033460.3

Allele description [Variation Report for NM_002834.5(PTPN11):c.179_182delinsT (p.Gly60_Asp61delinsVal)]

NM_002834.5(PTPN11):c.179_182delinsT (p.Gly60_Asp61delinsVal)

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.179_182delinsT (p.Gly60_Asp61delinsVal)

Other names:

p.G60V

HGVS:

NC_000012.12:g.112450359_112450362delinsT
NG_007459.1:g.36628_36631delinsT
NM_001330437.2:c.179_182delinsT
NM_001374625.1:c.176_179delinsT
NM_002834.5:c.179_182delinsTMANE SELECT
NM_080601.3:c.179_182delinsT
NP_001317366.1:p.Gly60_Asp61delinsVal
NP_001361554.1:p.Gly59_Asp60delinsVal
NP_002825.3:p.Gly60_Asp61delinsVal
NP_542168.1:p.Gly60_Asp61delinsVal
LRG_614t1:c.179_182delGTGAinsT
LRG_614:g.36628_36631delinsT
NC_000012.11:g.112888163_112888166delinsT
NM_002834.3:c.179_182delGTGAinsT

Links:

dbSNP: rs397507508

NCBI 1000 Genomes Browser:

rs397507508

Molecular consequence:

NM_001330437.2:c.179_182delinsT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001374625.1:c.176_179delinsT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_002834.5:c.179_182delinsT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_080601.3:c.179_182delinsT - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:: RASopathy
Synonyms:: rasopathies; Noonan spectrum disorder
Identifiers:: MONDO: MONDO:0021060; MedGen: C5555857

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
SCV000057365	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	MUT (Jan 1, 2006)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000057365

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

MUT
(Jan 1, 2006)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000057365.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Converted during submission to Pathogenic.

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

Last Updated: Jun 9, 2022

ClinVar

Relating variation to medicine