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NC_012920.1(MT-ATP6):m.9049G>A AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 9, 2019
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:
RCV000993792.1

Allele description [Variation Report for NC_012920.1(MT-ATP6):m.9049G>A]

NC_012920.1(MT-ATP6):m.9049G>A

Gene:
MT-ATP6:mitochondrially encoded ATP synthase 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-ATP6):m.9049G>A
Other names:
(p.Gly175*)
HGVS:
NC_012920.1:m.9049G>A
Links:
dbSNP: rs1603222011
NCBI 1000 Genomes Browser:
rs1603222011
Observations:
1

Condition(s)

Name:
Cerebellar ataxia
Identifiers:
MONDO: MONDO:0000437; MedGen: C0007758; Human Phenotype Ontology: HP:0001251
Name:
Gonadal dysgenesis
Identifiers:
MONDO: MONDO:0001967; MedGen: C0018051; Human Phenotype Ontology: HP:0000133
Name:
Progressive spastic paraparesis
Identifiers:
MedGen: C0747251; Human Phenotype Ontology: HP:0007199
Name:
Abnormal basal ganglia MRI signal intensity
Identifiers:
MedGen: C4022745; Human Phenotype Ontology: HP:0012751

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001146966MGZ Medical Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 9, 2019) 		inheritedclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes11not providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From MGZ Medical Genetics Center, SCV001146966.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

heteroplasmic 50% in blood sample, haplogroup J1b1a1, PS6+PM9+PP6+PP7 (Modified ACMG Guidelines Mito Lab Baylor College), variant present in a patient together with m.14724G>A

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

Last Updated: May 19, 2024