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NC_012920.1(MT-CYB):m.14985G>A AND Familial colorectal cancer

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 1998
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:
RCV000010314.2

Allele description [Variation Report for NC_012920.1(MT-CYB):m.14985G>A]

NC_012920.1(MT-CYB):m.14985G>A

Gene:
MT-CYB:mitochondrially encoded cytochrome b [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-CYB):m.14985G>A
Other names:
MTCYB, 14985G-A, ARG80HIS; R80H
HGVS:
NC_012920.1:m.14985G>A
Protein change:
ARG80HIS
Links:
OMIM: 516020.0003; dbSNP: rs207459995
NCBI 1000 Genomes Browser:
rs207459995

Condition(s)

Name:
Familial colorectal cancer
Identifiers:
MONDO: MONDO:0023113; MedGen: CN280943

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000030539OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 1998) 		unknownliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

On the origin of cancer cells.

WARBURG O.

Science. 1956 Feb 24;123(3191):309-14. No abstract available.

PubMed [citation]
PMID:
13298683

Somatic mutations of the mitochondrial genome in human colorectal tumours.

Polyak K, Li Y, Zhu H, Lengauer C, Willson JK, Markowitz SD, Trush MA, Kinzler KW, Vogelstein B.

Nat Genet. 1998 Nov;20(3):291-3.

PubMed [citation]
PMID:
9806551

Details of each submission

From OMIM, SCV000030539.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Early on, Warburg (1956) suggested that alterations of oxidative phosphorylation in tumor cells play a causative role in cancerous growth. Interest in mitochondria with regard to neoplasia has revived, largely because of their role in apoptosis and other aspects of tumor biology. The mitochondrial genome is particularly susceptible to mutations because of the high level of reactive oxygen species (ROS) generated in this organelle, coupled with a low level of DNA repair. In a colorectal cancer, Polyak et al. (1998) found 3 somatic mutations in the mitochondrial genome. Two occurred in the MTCYB gene: a 14985G-A change leading to an arg80-to-his substitution; and a 15572T-C transition, leading to a phe276-to-leu substitution (516020.0004). The third mutation occurred in the MTCO1 gene; see 516040.0002.

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

Last Updated: Jun 9, 2024