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NC_012920.1(MT-ND5):m.12535C>T AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 22, 2013
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:
RCV000223843.2

Allele description [Variation Report for NC_012920.1(MT-ND5):m.12535C>T]

NC_012920.1(MT-ND5):m.12535C>T

Gene:
MT-ND5:mitochondrially encoded NADH dehydrogenase 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-ND5):m.12535C>T
HGVS:
NC_012920.1:m.12535C>T
Links:
dbSNP: rs876661356
NCBI 1000 Genomes Browser:
rs876661356
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000280191Stanford Center for Inherited Cardiovascular Disease, Stanford University
no assertion criteria provided
Uncertain significance
(Apr 22, 2013) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot providednot providednot providedclinical testing

Details of each submission

From Stanford Center for Inherited Cardiovascular Disease, Stanford University, SCV000280191.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. MT-ND5 m.12535 C>T This is a novel variant. M.12535 C>T results in a semi-conservative amino acid sbstitution of a positively charged Histidine residue with a neutral, polar Tyrosine at a positive that is not well conserved across sepcies. In silico analysis predicts m.12535 C>T is probably damaging to the protein stucture/function. This variant has been observed in the general population at a low frequency (1/2,704 in mtDB, 1/3,735 in MitoWheel).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not providednot providednot provided

Last Updated: May 19, 2024