NM_002834.5(PTPN11):c.175_186dup (p.Thr59_Tyr62dup) AND Noonan syndrome

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001261098.2

Allele description [Variation Report for NM_002834.5(PTPN11):c.175_186dup (p.Thr59_Tyr62dup)]

NM_002834.5(PTPN11):c.175_186dup (p.Thr59_Tyr62dup)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

12q24.13

Genomic location:

Preferred name:

NM_002834.5(PTPN11):c.175_186dup (p.Thr59_Tyr62dup)

HGVS:

NC_000012.12:g.112450355_112450366dup
NG_007459.1:g.36624_36635dup
NM_001330437.2:c.175_186dup
NM_001374625.1:c.172_183dup
NM_002834.5:c.175_186dupMANE SELECT
NM_080601.3:c.175_186dup
NP_001317366.1:p.Thr59_Tyr62dup
NP_001361554.1:p.Thr58_Tyr61dup
NP_002825.3:p.Thr59_Tyr62dup
NP_542168.1:p.Thr59_Tyr62dup
LRG_614:g.36624_36635dup
NC_000012.11:g.112888159_112888170dup
NM_002834.4:c.175_186dup

Links:

Molecular consequence:

NM_001330437.2:c.175_186dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001374625.1:c.172_183dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_002834.5:c.175_186dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_080601.3:c.175_186dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Observations:

Condition(s)

Name:: Noonan syndrome (NS)
Synonyms:: Noonan's syndrome; Pseudo-Turner syndrome
Identifiers:: MONDO: MONDO:0018997; MeSH: D009634; MedGen: C0028326; OMIM: PS163950

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001438501	Service de Génétique Moléculaire, Hôpital Robert Debré	no assertion criteria provided	Likely pathogenic	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001438501

Service de Génétique Moléculaire, Hôpital Robert Debré

no assertion criteria provided

Likely pathogenic

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	1	not provided	not provided	not provided	clinical testing

Details of each submission

From Service de Génétique Moléculaire, Hôpital Robert Debré, SCV001438501.1

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

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

Last Updated: Jun 23, 2024

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