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NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 28, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000033452.8

Allele description [Variation Report for NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile)]

NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile)

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.155C>T (p.Thr52Ile)
Other names:
p.T52I:ACC>ATC; NM_002834.4(PTPN11):c.155C>T
HGVS:
  • NC_000012.12:g.112450335C>T
  • NG_007459.1:g.36604C>T
  • NM_001330437.2:c.155C>T
  • NM_001374625.1:c.152C>T
  • NM_002834.5:c.155C>TMANE SELECT
  • NM_080601.3:c.155C>T
  • NP_001317366.1:p.Thr52Ile
  • NP_001361554.1:p.Thr51Ile
  • NP_002825.3:p.Thr52Ile
  • NP_542168.1:p.Thr52Ile
  • LRG_614t1:c.155C>T
  • LRG_614:g.36604C>T
  • NC_000012.11:g.112888139C>T
  • NM_002834.3:c.155C>T
  • NM_002834.4:c.155C>T
  • NM_080601.1:c.155C>T
  • c.155C>T
Protein change:
T51I
Links:
dbSNP: rs397507503
NCBI 1000 Genomes Browser:
rs397507503
Molecular consequence:
  • NM_001330437.2:c.155C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374625.1:c.152C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002834.5:c.155C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080601.3:c.155C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000057357GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Apr 28, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000057357.14

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in association with pulmonary stenosis and Noonan syndrome (Ezquieta et al., 2012; Gulec et al., 2015; Lazzaro et al., 2020); This variant is associated with the following publications: (PMID: 25804457, 22465605, 31366893, 32059087)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024