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NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro) AND Noonan syndrome

Clinical significance:Likely pathogenic (Last evaluated: Sep 28, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000037635.4

Allele description [Variation Report for NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro)]

NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro)

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.214G>C (p.Ala72Pro)
Other names:
p.A72P:GCC>CCC
HGVS:
  • NC_000012.12:g.112450394G>C
  • NG_007459.1:g.36663G>C
  • NM_001330437.2:c.214G>C
  • NM_001374625.1:c.211G>C
  • NM_002834.5:c.214G>CMANE SELECT
  • NM_080601.3:c.214G>C
  • NP_001317366.1:p.Ala72Pro
  • NP_001361554.1:p.Ala71Pro
  • NP_002825.3:p.Ala72Pro
  • NP_542168.1:p.Ala72Pro
  • LRG_614t1:c.214G>C
  • LRG_614:g.36663G>C
  • NC_000012.11:g.112888198G>C
  • NM_002834.3:c.214G>C
  • NM_080601.1:c.214G>C
  • c.214G>C
Protein change:
A71P
Links:
dbSNP: rs121918453
NCBI 1000 Genomes Browser:
rs121918453
Molecular consequence:
  • NM_001330437.2:c.214G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374625.1:c.211G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002834.5:c.214G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080601.3:c.214G>C - 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
SCV000061297Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicinecriteria provided, single submitter
Likely pathogenic
(Sep 28, 2012)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings.

Lee KA, Williams B, Roza K, Ferguson H, David K, Eddleman K, Stone J, Edelmann L, Richard G, Gelb BD, Kornreich R.

Clin Genet. 2009 Feb;75(2):190-4. doi: 10.1111/j.1399-0004.2008.01085.x. Epub 2008 Aug 26.

PubMed [citation]
PMID:
18759865

The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.

Kratz CP, Niemeyer CM, Castleberry RP, Cetin M, Bergsträsser E, Emanuel PD, Hasle H, Kardos G, Klein C, Kojima S, Stary J, Trebo M, Zecca M, Gelb BD, Tartaglia M, Loh ML.

Blood. 2005 Sep 15;106(6):2183-5. Epub 2005 May 31.

PubMed [citation]
PMID:
15928039
PMCID:
PMC1895140
See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine, SCV000061297.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Aug 23, 2022

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