NM_002834.5(PTPN11):c.206A>T (p.Glu69Val) AND Noonan syndrome 3

Clinical significance:Likely pathogenic (Last evaluated: Feb 15, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000589756.1

Allele description [Variation Report for NM_002834.5(PTPN11):c.206A>T (p.Glu69Val)]

NM_002834.5(PTPN11):c.206A>T (p.Glu69Val)

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.206A>T (p.Glu69Val)
HGVS:
  • NC_000012.12:g.112450386A>T
  • NG_007459.1:g.36655A>T
  • NM_001330437.2:c.206A>T
  • NM_001374625.1:c.203A>T
  • NM_002834.5:c.206A>TMANE SELECT
  • NM_080601.3:c.206A>T
  • NP_001317366.1:p.Glu69Val
  • NP_001361554.1:p.Glu68Val
  • NP_002825.3:p.Glu69Val
  • NP_542168.1:p.Glu69Val
  • LRG_614t1:c.206A>T
  • LRG_614:g.36655A>T
  • NC_000012.11:g.112888190A>T
  • NM_002834.3:c.206A>T
Protein change:
E68V
Links:
dbSNP: rs727503380
NCBI 1000 Genomes Browser:
rs727503380
Molecular consequence:
  • NM_001330437.2:c.206A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374625.1:c.203A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002834.5:c.206A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080601.3:c.206A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Noonan syndrome 3 (NS3)
Synonyms:
KRAS gene related Noonan syndrome
Identifiers:
MONDO: MONDO:0012371; MedGen: C1860991; Orphanet: 648; OMIM: 609942

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000698067Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely pathogenic
(Feb 15, 2016)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia.

Bentires-Alj M, Paez JG, David FS, Keilhack H, Halmos B, Naoki K, Maris JM, Richardson A, Bardelli A, Sugarbaker DJ, Richards WG, Du J, Girard L, Minna JD, Loh ML, Fisher DE, Velculescu VE, Vogelstein B, Meyerson M, Sellers WR, Neel BG.

Cancer Res. 2004 Dec 15;64(24):8816-20.

PubMed [citation]
PMID:
15604238

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y.

Hum Mutat. 2008 Aug;29(8):992-1006. doi: 10.1002/humu.20748. Review.

PubMed [citation]
PMID:
18470943
See all PubMed Citations (6)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698067.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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