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

Clinical significance:Likely pathogenic (Last evaluated: Feb 4, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000151687.3

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]
Observations:
1

Condition(s)

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000199996Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely pathogenic
(Feb 4, 2019)
germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown11not providednot providednot providedclinical testing

Citations

PubMed

Genotype differences in cognitive functioning in Noonan syndrome.

Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Seidenberg MS.

Genes Brain Behav. 2009 Apr;8(3):275-82. doi: 10.1111/j.1601-183X.2008.00469.x. Epub 2008 Dec 11.

PubMed [citation]
PMID:
19077116
PMCID:
PMC2760992

PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.

Brasil AS, Pereira AC, Wanderley LT, Kim CA, Malaquias AC, Jorge AA, Krieger JE, Bertola DR.

Genet Test Mol Biomarkers. 2010 Jun;14(3):425-32. doi: 10.1089/gtmb.2009.0192.

PubMed [citation]
PMID:
20578946
See all PubMed Citations (7)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000199996.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (7)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not provided1not provided

Last Updated: Nov 27, 2021

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