NM_002834.5(PTPN11):c.1620C>T (p.His540=) AND Noonan syndrome

Clinical significance:Likely benign (Last evaluated: Mar 14, 2013)

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:
RCV000157005.2

Allele description [Variation Report for NM_002834.5(PTPN11):c.1620C>T (p.His540=)]

NM_002834.5(PTPN11):c.1620C>T (p.His540=)

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.1620C>T (p.His540=)
Other names:
p.H540H:CAC>CAT
HGVS:
  • NC_000012.12:g.112502164C>T
  • NG_007459.1:g.88433C>T
  • NM_001330437.2:c.1632C>T
  • NM_001374625.1:c.1617C>T
  • NM_002834.5:c.1620C>TMANE SELECT
  • NP_001317366.1:p.His544=
  • NP_001361554.1:p.His539=
  • NP_002825.3:p.His540=
  • LRG_614t1:c.1620C>T
  • LRG_614:g.88433C>T
  • NC_000012.11:g.112939968C>T
  • NC_000012.11:g.112939968C>T
  • NM_002834.3:c.1620C>T
  • NM_080601.1:c.*15531C>T
Links:
dbSNP: rs587781132
NCBI 1000 Genomes Browser:
rs587781132
Molecular consequence:
  • NM_001330437.2:c.1632C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374625.1:c.1617C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002834.5:c.1620C>T - synonymous variant - [Sequence Ontology: SO:0001819]
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
SCV000206730ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriesno assertion criteria providedLikely benign
(Mar 14, 2013)
unknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasian _ not further specifiedunknownyes1not providednot provided1noclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000206730.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian _ not further specified1not providednoclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 20, 2021

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