NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala) AND Neuroblastoma

Clinical significance:Likely pathogenic (Last evaluated: May 31, 2016)

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:
RCV000424995.1

Allele description [Variation Report for NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala)]

NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala)

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.227A>C (p.Glu76Ala)
Other names:
p.E76A:GAG>GCG
HGVS:
  • NC_000012.12:g.112450407A>C
  • NG_007459.1:g.36676A>C
  • NM_001330437.2:c.227A>C
  • NM_001374625.1:c.224A>C
  • NM_002834.5:c.227A>CMANE SELECT
  • NM_080601.3:c.227A>C
  • NP_001317366.1:p.Glu76Ala
  • NP_001361554.1:p.Glu75Ala
  • NP_002825.3:p.Glu76Ala
  • NP_542168.1:p.Glu76Ala
  • LRG_614t1:c.227A>C
  • LRG_614:g.36676A>C
  • NC_000012.11:g.112888211A>C
  • NM_002834.3:c.227A>C
  • Q06124:p.Glu76Ala
Protein change:
E75A; GLU76ALA
Links:
UniProtKB: Q06124#VAR_015998; OMIM: 176876.0017; dbSNP: rs121918465
NCBI 1000 Genomes Browser:
rs121918465
Molecular consequence:
  • NM_001330437.2:c.227A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374625.1:c.224A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002834.5:c.227A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080601.3:c.227A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neuroblastoma (NB)
Identifiers:
MONDO: MONDO:0005072; MeSH: D009447; MedGen: C0027819; Orphanet: 635; Human Phenotype Ontology: HP:0003006

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000507250Database of Curated Mutations (DoCM)no assertion criteria providedLikely pathogenic
(May 31, 2016)
somaticliterature only

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

Chang MT, Asthana S, Gao SP, Lee BH, Chapman JS, Kandoth C, Gao J, Socci ND, Solit DB, Olshen AB, Schultz N, Taylor BS.

Nat Biotechnol. 2016 Feb;34(2):155-63. doi: 10.1038/nbt.3391. Epub 2015 Nov 30.

PubMed [citation]
PMID:
26619011
PMCID:
PMC4744099

Details of each submission

From Database of Curated Mutations (DoCM), SCV000507250.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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