NC_012920.1(MT-ND1):m.1555A>G AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 27, 2014
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:: RCV000505667.10

Allele description [Variation Report for NC_012920.1(MT-ND1):m.1555A>G]

NC_012920.1(MT-ND1):m.1555A>G

Genes:

MT-ND1:mitochondrially encoded NADH dehydrogenase 1 [Gene - OMIM - HGNC]
MT-RNR1:mitochondrially encoded 12S RNA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1(MT-ND1):m.1555A>G

Other names:

A1555G

HGVS:

NC_012920.1:m.1555A>G
m.1555A>G

Nucleotide change:

1555A-G

Links:

Genetic Testing Registry (GTR): GTR000322828; Genetic Testing Registry (GTR): GTR000334707; Genetic Testing Registry (GTR): GTR000500593; Medical Genetics Summaries: m.1555A>G; PharmGKB: 1444608367; PharmGKB: 1444608367PA164744372; PharmGKB: 1444608367PA449753; PharmGKB: 1444608367PA450137; PharmGKB: 1444608367PA450608; PharmGKB: 1444608367PA451512; PharmGKB: 1444608367PA451704; PharmGKB: 1444608367PA452167; OMIM: 561000.0001; dbSNP: rs267606617

NCBI 1000 Genomes Browser:

rs267606617

Condition(s)

Name:: Aminoglycoside-induced deafness
Synonyms:: DEAFNESS, STREPTOMYCIN-INDUCED; STREPTOMYCIN OTOTOXICITY
Identifiers:: MONDO: MONDO:0010799; MedGen: C1838854; Orphanet: 168609; OMIM: 580000

Name:: Mitochondrial non-syndromic sensorineural hearing loss
Synonyms:: Deafness, nonsyndromic sensorineural, mitochondrial
Identifiers:: MONDO: MONDO:0010779; MedGen: C3151897; Orphanet: 90641; OMIM: 500008

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000599977	Donald Williams Parsons Laboratory, Baylor College of Medicine - CSER-BASIC3 See additional submitters Donald Williams Parsons Laboratory, Baylor College of Medicine	no assertion criteria provided	Pathogenic (Feb 27, 2014)	somatic	research	PubMed (5) [See all records that cite these PMIDs] 16631122, 18790089, 12920080, 9915970, 26822237

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000599977

Donald Williams Parsons Laboratory, Baylor College of Medicine - CSER-BASIC3

See additional submitters

no assertion criteria provided

Pathogenic
(Feb 27, 2014)

somatic

research

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Hispanic Americans	somatic	unknown	1	1	not provided	not provided	not provided	research

Citations

PubMed

Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene.

Bravo O, Ballana E, Estivill X.

Biochem Biophys Res Commun. 2006 Jun 2;344(2):511-6. Epub 2006 Mar 30.

PubMed [citation]

PMID:: 16631122

Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients.

Konings A, Van Camp G, Goethals A, Van Eyken E, Vandevelde A, Ben Azza J, Peeters N, Wuyts W, Smeets H, Van Laer L.

Mitochondrion. 2008 Dec;8(5-6):377-82. doi: 10.1016/j.mito.2008.08.001. Epub 2008 Aug 26.

PubMed [citation]

PMID:: 18790089

See all PubMed Citations (5)

Details of each submission

From Donald Williams Parsons Laboratory, Baylor College of Medicine - CSER-BASIC3, SCV000599977.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Hispanic Americans	1	not provided	not provided	research (GTR000508680.4)	PubMed (5)

Description

This variant has been previously reported as disease-causing. It was an incidental finding in our study, in a 4-month-old female with kaposiform hemangioendothelioma. There was 65% heteroplasmy, and it was not detected in the mother, although heteroplasmy below 20% may not be detectable.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	unknown	not provided	blood	not provided	(GTR000508680.4)	1	not provided	1	not provided

Last Updated: May 7, 2024

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