NM_002467.6(MYC):c.220C>G (p.Pro74Ala) AND Cholesteatoma of middle ear

Germline classification:: other (1 submission)
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003159073.1

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:: Cholesteatoma of middle ear
Identifiers:: MONDO: MONDO:0006533; MeSH: D018424; MedGen: C0155490

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003762186	Department of Human Genetics, Nagasaki University	criteria provided, single submitter (AMP Guidelines, 2017)	other	somatic	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003762186

Department of Human Genetics, Nagasaki University

criteria provided, single submitter

(AMP Guidelines, 2017)

other

somatic

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.

Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, Tsimberidou AM, Vnencak-Jones CL, Wolff DJ, Younes A, Nikiforova MN.

J Mol Diagn. 2017 Jan;19(1):4-23. doi: 10.1016/j.jmoldx.2016.10.002. Review.

PubMed [citation]

PMID:: 27993330
PMCID:: PMC5707196

Details of each submission

From Department of Human Genetics, Nagasaki University, SCV003762186.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

Description

variant allele frequency in tumor is 0.157 (45/287)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Aug 11, 2024

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