NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 26, 2025
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:: RCV002458349.5

Allele description [Variation Report for NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile)]

NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile)

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.1144G>A (p.Val382Ile)

HGVS:

NC_000012.12:g.112482125G>A
NG_007459.1:g.68394G>A
NM_001330437.2:c.1144G>A
NM_001374625.1:c.1141G>A
NM_002834.5:c.1144G>AMANE SELECT
NM_080601.3:c.1144G>A
NP_001317366.1:p.Val382Ile
NP_001361554.1:p.Val381Ile
NP_002825.3:p.Val382Ile
NP_542168.1:p.Val382Ile
LRG_614t1:c.1144G>A
LRG_614:g.68394G>A
NC_000012.11:g.112919929G>A
NM_002834.3:c.1144G>A
NM_002834.5:c.1144G>A

Protein change:

V381I

Links:

dbSNP: rs1214510641

Molecular consequence:

NM_001330437.2:c.1144G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374625.1:c.1141G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002834.5:c.1144G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_080601.3:c.1144G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002616367	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 26, 2025)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002616367

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 26, 2025)

germline

clinical testing

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

Citation Link

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

Citations

PubMed

Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions.

Leach NT, Wilson Mathews DR, Rosenblum LS, Zhou Z, Zhu H, Heim RA.

Genet Med. 2019 Feb;21(2):417-425. doi: 10.1038/s41436-018-0062-0. Epub 2018 Jun 15. Erratum in: Genet Med. 2019 Jul;21(7):1670. doi: 10.1038/s41436-018-0128-z..

PubMed [citation]

PMID:: 29907801

Details of each submission

From Ambry Genetics, SCV002616367.4

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

Description

The p.V382I variant (also known as c.1144G>A), located in coding exon 10 of the PTPN11 gene, results from a G to A substitution at nucleotide position 1144. The valine at codon 382 is replaced by isoleucine, an amino acid with highly similar properties. This variant was detected in a prenatal specimen referred for genetic testing for Noonan syndrome and related disorders; however, details were limited (Leach NT et al. Genet Med, 2019 02;21:417-425). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Jul 27, 2026

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