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

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 10, 2022
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:: RCV002499367.2

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:: Noonan syndrome 1 (NS1)
Synonyms:: FEMALE PSEUDO-TURNER SYNDROME; TURNER PHENOTYPE WITH NORMAL KARYOTYPE; PTPN11-Related Noonan Syndrome
Identifiers:: MONDO: MONDO:0008104; MedGen: C4551602; Orphanet: 648; OMIM: 163950

Name:: Juvenile myelomonocytic leukemia (JMML)
Synonyms:: LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC
Identifiers:: MONDO: MONDO:0011908; MedGen: C0349639; Orphanet: 86834; OMIM: 607785; Human Phenotype Ontology: HP:0012209

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

Name:: LEOPARD syndrome 1 (LPRD1)
Synonyms:: LENTIGINOSIS, CARDIOMYOPATHIC; MULTIPLE LENTIGINES SYNDROME; PTPN11-Related LEOPARD Syndrome
Identifiers:: MONDO: MONDO:0100082; MedGen: C4551484; Orphanet: 500; OMIM: 151100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002778219	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 10, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002778219

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 10, 2022)

unknown

clinical testing

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002778219.1

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

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

Last Updated: Jul 27, 2026

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