NM_002834.4(PTPN11):c.14+25G>C AND Noonan syndrome

Clinical significance:Benign (Last evaluated: May 29, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000157025.1

Allele description [Variation Report for NM_002834.4(PTPN11):c.14+25G>C]

NM_002834.4(PTPN11):c.14+25G>C

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_002834.4(PTPN11):c.14+25G>C
HGVS:
  • NC_000012.12:g.112419150G>C
  • NG_007459.1:g.5419G>C
  • NM_001330437.1:c.14+25G>C
  • NM_002834.4:c.14+25G>C
  • NM_080601.3:c.14+25G>C
  • LRG_614t1:c.14+25G>C
  • LRG_614:g.5419G>C
  • NC_000012.11:g.112856954G>C
  • NM_002834.3:c.14+25G>C
Links:
dbSNP: rs7972574
NCBI 1000 Genomes Browser:
rs7972574
Molecular consequence:
  • NM_001330437.1:c.14+25G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002834.4:c.14+25G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080601.3:c.14+25G>C - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000206752ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriesno assertion criteria providedBenign
(May 29, 2014)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000206752.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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