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NM_002467.6(MYC):c.218C>T (p.Thr73Ile)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
6 (Most recent: Jul 18, 2016)
Last evaluated:
May 31, 2016
Accession:
VCV000376300.1
Variation ID:
376300
Description:
single nucleotide variant
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NM_002467.6(MYC):c.218C>T (p.Thr73Ile)

Allele ID
363179
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q24.21
Genomic location
8: 127738435 (GRCh38) GRCh38 UCSC
8: 128750681 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.128750681C>T
NC_000008.11:g.127738435C>T
NG_007161.2:g.8002C>T
... more HGVS
Protein change
T73I, T72I
Other names
-
Canonical SPDI
NC_000008.11:127738434:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16602746
dbSNP: rs756091827
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000419562.1
Likely pathogenic 1 no assertion criteria provided Jul 14, 2015 RCV000423713.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000430246.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000434207.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000440950.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000441422.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYC - - GRCh38
GRCh37
17 61

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Lymphoma, Non-Hodgkin, Familial
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505618.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
None
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505619.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Malignant melanoma of skin
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505620.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Neoplasm
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505621.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Carcinoma of esophagus
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505622.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Neuroblastoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505623.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Chang MT Nature biotechnology 2016 PMID: 26619011
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE The Journal of molecular diagnostics : JMD 2014 PMID: 25157968
http://docm.genome.wustl.edu/variants/ENST00000377970:c.218C>T - - - -

Text-mined citations for rs756091827...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021