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NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala) AND Juvenile myelomonocytic leukemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2003
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:
RCV000014267.5

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:
Juvenile myelomonocytic leukemia (JMML)
Synonyms:
LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC
Identifiers:
MONDO: MONDO:0011908; MedGen: C0349639; Orphanet: 86834; OMIM: 607785; Human Phenotype Ontology: HP:0012209

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034516OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 2003) 		somaticliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, Hählen K, Hasle H, Licht JD, Gelb BD.

Nat Genet. 2003 Jun;34(2):148-50.

PubMed [citation]
PMID:
12717436

Details of each submission

From OMIM, SCV000034516.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

See 176876.0014 and Tartaglia et al. (2003).

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

Last Updated: Feb 13, 2023