NM_004085.4(TIMM8A):c.112C>T (p.Gln38Ter) AND Deafness dystonia syndrome

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000020579.4

Allele description [Variation Report for NM_004085.4(TIMM8A):c.112C>T (p.Gln38Ter)]

NM_004085.4(TIMM8A):c.112C>T (p.Gln38Ter)

Gene:

TIMM8A:translocase of inner mitochondrial membrane 8A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.1

Genomic location:

Preferred name:

NM_004085.4(TIMM8A):c.112C>T (p.Gln38Ter)

HGVS:

NC_000023.11:g.101348553G>A
NG_009616.1:g.42672C>T
NG_011734.1:g.5417C>T
NM_001145951.2:c.112C>T
NM_004085.4:c.112C>TMANE SELECT
NP_001139423.1:p.Gln38Ter
NP_004076.1:p.Gln38Ter
LRG_128:g.42672C>T
NC_000023.10:g.100603541G>A
NM_004085.2:c.112C>T

Protein change:

Q38*

Links:

dbSNP: rs80356559

NCBI 1000 Genomes Browser:

rs80356559

Molecular consequence:

NM_001145951.2:c.112C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004085.4:c.112C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Deafness dystonia syndrome (MTS)
Synonyms:: Mohr-Tranebjaerg syndrome; Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency; Deafness-dystonia-optic atrophy syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010578; MedGen: C0796074; Orphanet: 52368; OMIM: 304700

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000041058	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (2) [See all records that cite these PMIDs] 17999202, 20301395

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000041058

GeneReviews

no classification provided

not provided

unknown

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene.

Blesa JR, Solano A, Briones P, Prieto-Ruiz JA, Hernández-Yago J, Coria F.

Neuromolecular Med. 2007;9(4):285-91. Epub 2007 Aug 3.

PubMed [citation]

PMID:: 17999202

Deafness-Dystonia-Optic Neuronopathy Syndrome.

Tranebjærg L.

2003 Feb 6 [updated 2019 Nov 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301395

Details of each submission

From GeneReviews, SCV000041058.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	not provided	not provided	Assert pathogenicity		not provided	not provided	not provided	not provided

Last Updated: Aug 19, 2023

ClinVar

Relating variation to medicine