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NM_002467.6(MYC):c.214C>T (p.Pro72Ser) AND Burkitt lymphoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 1993
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:
RCV000013402.24

Allele description [Variation Report for NM_002467.6(MYC):c.214C>T (p.Pro72Ser)]

NM_002467.6(MYC):c.214C>T (p.Pro72Ser)

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.214C>T (p.Pro72Ser)
Other names:
P57S
HGVS:
  • NC_000008.11:g.127738431C>T
  • NG_007161.2:g.7998C>T
  • NM_001354870.1:c.211C>T
  • NM_002467.6:c.214C>TMANE SELECT
  • NP_001341799.1:p.Pro71Ser
  • NP_002458.2:p.Pro72Ser
  • LRG_1397t1:c.214C>T
  • LRG_1397:g.7998C>T
  • LRG_1397p1:p.Pro72Ser
  • NC_000008.10:g.128750677C>T
Protein change:
P71S; PRO57SER
Links:
OMIM: 190080.0001; dbSNP: rs28933407
NCBI 1000 Genomes Browser:
rs28933407
Molecular consequence:
  • NM_001354870.1:c.211C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002467.6:c.214C>T - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033649OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 1993) 		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

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, SCV000033649.2

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

Description

Bhatia et al. (1993) found homozygosity for a CCC-to-TCC transition converting proline-57 to serine in Burkitt lymphoma-20 (DIF) (113970).

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

Last Updated: Dec 24, 2023