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NM_002834.5(PTPN11):c.369G>T (p.Glu123Asp) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 18, 2016
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:
RCV000288839.1

Allele description [Variation Report for NM_002834.5(PTPN11):c.369G>T (p.Glu123Asp)]

NM_002834.5(PTPN11):c.369G>T (p.Glu123Asp)

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.369G>T (p.Glu123Asp)
HGVS:
  • NC_000012.12:g.112453231G>T
  • NG_007459.1:g.39500G>T
  • NM_001330437.2:c.369G>T
  • NM_001374625.1:c.366G>T
  • NM_002834.5:c.369G>TMANE SELECT
  • NM_080601.3:c.369G>T
  • NP_001317366.1:p.Glu123Asp
  • NP_001361554.1:p.Glu122Asp
  • NP_002825.3:p.Glu123Asp
  • NP_542168.1:p.Glu123Asp
  • LRG_614t1:c.369G>T
  • LRG_614:g.39500G>T
  • NC_000012.11:g.112891035G>T
  • NM_002834.3:c.369G>T
Protein change:
E122D
Links:
dbSNP: rs755619262
NCBI 1000 Genomes Browser:
rs755619262
Molecular consequence:
  • NM_001330437.2:c.369G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374625.1:c.366G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002834.5:c.369G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080601.3:c.369G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000330179GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jan 18, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000330179.7

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

Description

The E123D variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E123D variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the E123D variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Furthermore, missense variants in nearby residues have not been reported in the Human Gene Mutation Database (Stenson et al., 2014), indicating that this region of the gene is not known to harbor disease-causing variants.

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

Last Updated: Sep 29, 2024