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NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) AND Noonan Syndrome with Juvenile Myelomonocytic Leukemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 29, 2015
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:
RCV000033543.5

Allele description

NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr)

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.1504T>A (p.Ser502Thr)
Other names:
p.S502T:TCA>ACA
HGVS:
  • NC_000012.12:g.112489080T>A
  • NG_007459.1:g.75349T>A
  • NM_001330437.2:c.1516T>A
  • NM_001374625.1:c.1501T>A
  • NM_002834.5:c.1504T>AMANE SELECT
  • NP_001317366.1:p.Ser506Thr
  • NP_001361554.1:p.Ser501Thr
  • NP_002825.3:p.Ser502Thr
  • LRG_614t1:c.1504T>A
  • LRG_614:g.75349T>A
  • NC_000012.11:g.112926884T>A
  • NM_002834.3:c.1504T>A
Protein change:
S501T; SER502THR
Links:
OMIM: 176876.0007; dbSNP: rs121918458
NCBI 1000 Genomes Browser:
rs121918458
Molecular consequence:
  • NM_001330437.2:c.1516T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374625.1:c.1501T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002834.5:c.1504T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000204062Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
no assertion criteria provided
Pathogenic
(Sep 29, 2015) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not providednot providednot providedclinical testing

Citations

PubMed

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, Cordeddu V, Zampino G, Burgt Iv, Palleschi A, Petrucci TC, Sorcini M, Schoch C, Foa R, Emanuel PD, Gelb BD.

Am J Hum Genet. 2006 Feb;78(2):279-90. Epub 2005 Dec 7.

PubMed [citation]
PMID:
16358218
PMCID:
PMC1380235

Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.

Yoshida R, Hasegawa T, Hasegawa Y, Nagai T, Kinoshita E, Tanaka Y, Kanegane H, Ohyama K, Onishi T, Hanew K, Okuyama T, Horikawa R, Tanaka T, Ogata T.

J Clin Endocrinol Metab. 2004 Jul;89(7):3359-64.

PubMed [citation]
PMID:
15240615
See all PubMed Citations (5)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000204062.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (5)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

Last Updated: Apr 8, 2022