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NM_002834.5(PTPN11):c.1599+33A>G AND Noonan syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 13, 2011
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:
RCV000156978.8

Allele description [Variation Report for NM_002834.5(PTPN11):c.1599+33A>G]

NM_002834.5(PTPN11):c.1599+33A>G

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.1599+33A>G
HGVS:
  • NC_000012.12:g.112489208A>G
  • NG_007459.1:g.75477A>G
  • NM_001330437.2:c.1611+33A>G
  • NM_001374625.1:c.1596+33A>G
  • NM_002834.5:c.1599+33A>GMANE SELECT
  • LRG_614t1:c.1599+33A>G
  • LRG_614:g.75477A>G
  • NC_000012.11:g.112927012A>G
  • NM_002834.3:c.1599+33A>G
Links:
dbSNP: rs727505380
NCBI 1000 Genomes Browser:
rs727505380
Molecular consequence:
  • NM_001330437.2:c.1611+33A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374625.1:c.1596+33A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002834.5:c.1599+33A>G - intron variant - [Sequence Ontology: SO:0001627]
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000206700ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
no assertion criteria provided
Benign
(Jul 13, 2011) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasianunknownyes1not providednot provided1noclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000206700.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednoclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Mar 4, 2023