NC_012920.1(MT-CO1):m.6261G>A AND Leigh syndrome

Clinical significance:Benign (Last evaluated: Oct 17, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000853953.1

Allele description [Variation Report for NC_012920.1(MT-CO1):m.6261G>A]

NC_012920.1(MT-CO1):m.6261G>A

Gene:
MT-CO1:mitochondrially encoded cytochrome c oxidase I [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-CO1):m.6261G>A
HGVS:
  • NC_012920.1:m.6261G>A
  • NC_012920.1:m.6261G>A
  • NC_012920.1:m.6261G>A
  • YP_003024028.1:p.Ala120Thr
  • YP_003024028.1:p.Ala120Thr
Protein change:
A120T
Links:
dbSNP: rs201262114
NCBI 1000 Genomes Browser:
rs201262114

Condition(s)

Name:
Leigh syndrome (LS)
Synonyms:
Leigh Disease; Subacute necrotizing encephalopathy; Necrotizing encephalopathy infantile subacute of Leigh; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009723; MedGen: C0023264; Orphanet: 506; OMIM: 256000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000996986Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicinecriteria provided, single submitter
Benign
(Oct 17, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV000996986.1

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

Description

The NC_012920.1:m.6261G>A (YP_003024028.1:p.Ala120Thr) variant in MTCO1 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BA1

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

Last Updated: Oct 7, 2021

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