NC_012920.1:m.14248dupC AND Oxyphilic adenoma

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 15, 2011
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:: RCV000210344.1

Allele description [Variation Report for NC_012920.1:m.14248dupC]

NC_012920.1:m.14248dupC

Gene:

MT-ND6:mitochondrially encoded NADH dehydrogenase 6 [Gene - OMIM - HGNC]

Variant type:

Duplication

Genomic location:

Preferred name:

NC_012920.1:m.14248dupC

HGVS:

NC_012920.1:m.14248dup

Note:

NCBI staff reviewed the sequence information reported in PubMed 21555623 Fig. C to determine the location of this allele on the current reference sequence.

Links:

OMIM: 516006.0009; dbSNP: rs869312882

NCBI 1000 Genomes Browser:

rs869312882

Condition(s)

Name:: Oxyphilic adenoma
Synonyms:: Oncocytic adenoma; Oncocytoma
Identifiers:: MONDO: MONDO:0003424; MedGen: C1510502; OMIM: 553000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000266388	OMIM	no assertion criteria provided	Pathogenic (Sep 15, 2011)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000266388

OMIM

no assertion criteria provided

Pathogenic
(Sep 15, 2011)

germline

literature only

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mitochondrial DNA mutations in oncocytic adnexal lacrimal glands of the conjunctiva.

Bartoletti-Stella A, Salfi NC, Ceccarelli C, Attimonelli M, Romeo G, Gasparre G.

Arch Ophthalmol. 2011 May;129(5):664-6. doi: 10.1001/archophthalmol.2011.95. No abstract available.

PubMed [citation]

PMID:: 21555623

Details of each submission

From OMIM, SCV000266388.1

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

Description

In an oncocytic tumor (553000) of the adnexal lacrimal glands of the conjunctiva, Bartoletti-Stella et al. (2011) identified a 1-bp insertion (14249insC) in the MTND6 gene, predicted to cause a frameshift and hamper assembly of complex I. The mutation appeared to be heteroplasmic in the tumor, which was confirmed by immunohistochemical analysis showing that MTND6 expression was much fainter in the oncocytic neoplasm compared to nonneoplastic tissue. Ki67 staining revealed a low proliferation index of 1.8%, consistent with the benign nature of the case.

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

Last Updated: Dec 24, 2023

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