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NC_012920.1(MT-CYB):m.14969T>C AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 2018
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:
RCV000756354.8

Allele description [Variation Report for NC_012920.1(MT-CYB):m.14969T>C]

NC_012920.1(MT-CYB):m.14969T>C

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.14969T>C
HGVS:
NC_012920.1:m.14969T>C
Links:
dbSNP: rs1569484685
NCBI 1000 Genomes Browser:
rs1569484685

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000884143ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(May 3, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000884143.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The m.14969T>C variant affects the MT-CYB gene (c.223T>C; p.Tyr75His). This variant has not been reported in the medical literature, is not listed in gene-specific variant databases, nor has it been previously identified in our laboratory. It is also rare in the general population (0.007% allele frequency in MITOMAP), and the tyrosine at codon 75 is moderately conserved considering 13 species (Alamut v.2.11). Based on the available information, the clinical significance of this variant cannot be determined with certainty. Pathogenic variants in MT-CYB have been reported in association with multiple mitochondrial disorders, including Leber hereditary optic neuropathy (MITOMAP). References: MITOMAP: http://www.mitomap.org/foswiki/bin/view////Main/SearchAllele

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

Last Updated: May 19, 2024