NM_002467.6(MYC):c.220C>G (p.Pro74Ala) AND Burkitt lymphoma

Clinical significance:Pathogenic (Last evaluated: Sep 1, 1993)

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:
RCV000013405.21

Allele description [Variation Report for NM_002467.6(MYC):c.220C>G (p.Pro74Ala)]

NM_002467.6(MYC):c.220C>G (p.Pro74Ala)

Gene:
MYC:MYC proto-oncogene, bHLH transcription factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.21
Genomic location:
Preferred name:
NM_002467.6(MYC):c.220C>G (p.Pro74Ala)
Other names:
P59A
HGVS:
  • NC_000008.11:g.127738437C>G
  • NG_007161.2:g.8004C>G
  • NM_001354870.1:c.217C>G
  • NM_002467.6:c.220C>GMANE SELECT
  • NP_001341799.1:p.Pro73Ala
  • NP_002458.2:p.Pro74Ala
  • LRG_1397t1:c.220C>G
  • LRG_1397:g.8004C>G
  • LRG_1397p1:p.Pro74Ala
  • NC_000008.10:g.128750683C>G
Protein change:
P73A; PRO59ALA
Links:
OMIM: 190080.0004; dbSNP: rs121918685
NCBI 1000 Genomes Browser:
rs121918685
Molecular consequence:
  • NM_001354870.1:c.217C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002467.6:c.220C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Burkitt lymphoma (BL)
Synonyms:
Familial Burkitt's lymphoma; Burkitt's lymphoma
Identifiers:
MONDO: MONDO:0007243; MedGen: C0006413; Orphanet: 543; OMIM: 113970; Human Phenotype Ontology: HP:0030080

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033652OMIMno assertion criteria providedPathogenic
(Sep 1, 1993)
somaticliterature only

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

Summary from all submissions

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

Citations

PubMed

Point mutations in the c-Myc transactivation domain are common in Burkitt's lymphoma and mouse plasmacytomas.

Bhatia K, Huppi K, Spangler G, Siwarski D, Iyer R, Magrath I.

Nat Genet. 1993 Sep;5(1):56-61.

PubMed [citation]
PMID:
8220424

Details of each submission

From OMIM, SCV000033652.2

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

Description

Bhatia et al. (1993) found homozygosity for a CCG to GCG transversion converting proline-59 to alanine in Burkitt lymphoma-30 (WMN) (113970).

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

Last Updated: Oct 7, 2021

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