NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) AND PTPN11-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 17, 2024
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:: RCV004532491.2

Allele description [Variation Report for NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr)]

NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr)

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.923A>C (p.Asn308Thr)

Other names:

p.N308T:AAT>ACT

HGVS:

NC_000012.12:g.112477720A>C
NG_007459.1:g.63989A>C
NM_001330437.2:c.923A>C
NM_001374625.1:c.920A>C
NM_002834.5:c.923A>CMANE SELECT
NM_080601.3:c.923A>C
NP_001317366.1:p.Asn308Thr
NP_001361554.1:p.Asn307Thr
NP_002825.3:p.Asn308Thr
NP_542168.1:p.Asn308Thr
LRG_614t1:c.923A>C
LRG_614:g.63989A>C
NC_000012.11:g.112915524A>C
NM_002834.3:c.923A>C
NM_002834.4:c.923A>C
NM_080601.1:c.923A>C
c.923A>C

Protein change:

N307T

Links:

dbSNP: rs121918455

Molecular consequence:

NM_001330437.2:c.923A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374625.1:c.920A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002834.5:c.923A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_080601.3:c.923A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: PTPN11-related disorder
Synonyms:: PTPN11-Related Disorders
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004733870	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Pathogenic (Jan 17, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004733870

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Pathogenic
(Jan 17, 2024)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004733870.2

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

Description

The PTPN11 c.923A>C variant is predicted to result in the amino acid substitution p.Asn308Thr. This variant has been reported in at least four individuals with Noonan syndrome (Tartaglia et al. 2005. PubMed ID: 16358218; Pierpont et al. 2008. PubMed ID: 19077116; Table S9 - Jin et al. 2017. PubMed ID: 28991257). Additionally, this variant has been reported in three affected fetuses with features consistent with Noonan syndrome (Lee et al. 2008. PubMed ID: 18759865; Wilbe et al. 2017. PubMed ID: 28921562). Both de novo inheritance and gonadal mosaicism have been documented (Wilbe et al. 2017. PubMed ID: 28921562; Table S9 - Jin et al. 2017. PubMed ID: 28991257). This variant has not been reported in a large population database, indicating this variant is rare. Different amino acid substitutions (p.Asn308Asp and p.Asn308Ser) affecting the same amino acid have been reported as pathogenic (Human Gene Mutation Database). This variant is interpreted as pathogenic.

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

Last Updated: Jun 20, 2026

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