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

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 31, 2016
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:
RCV000444034.1

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:
Multiple myeloma (MM)
Synonyms:
Plasma cell myeloma; Kahler disease; Myelomatosis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009693; MeSH: D009101; MedGen: C0026764; Orphanet: 29073; Orphanet: 85443; OMIM: 254500; Human Phenotype Ontology: HP:0006775

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000507249Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(May 31, 2016) 		somaticliterature only

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

Citation Link

Help

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), SCV000507249.1

#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: Feb 13, 2023