NM_004085.4(TIMM8A):c.*503_*505dup AND Deafness dystonia syndrome

NM_004085.4(TIMM8A):c.503_505dup AND Deafness dystonia syndrome

Germline classification:: Benign (1 submission)
Last evaluated:: Feb 6, 2003
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:: RCV000020580.3

Allele description [Variation Report for NM_004085.4(TIMM8A):c.503_505dup]

NM_004085.4(TIMM8A):c.503_505dup

Gene:

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

Variant type:

Duplication

Cytogenetic location:

Xq22.1

Genomic location:

Preferred name:

NM_004085.4(TIMM8A):c.*503_*505dup

HGVS:

NC_000023.11:g.101345995_101345997dup
NG_011734.1:g.7974_7976dup
NM_001145951.2:c.*2391_*2393dup
NM_004085.4:c.*503_*505dupMANE SELECT
NC_000023.10:g.100600983_100600985dup
NM_004085.2:c.*502_*504dup

Links:

dbSNP: rs4024308

NCBI 1000 Genomes Browser:

rs4024308

Molecular consequence:

NM_001145951.2:c.*2391_*2393dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_004085.4:c.*503_*505dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000041060	GeneReviews	no assertion criteria provided	benign (Feb 6, 2003)	not provided	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000041060

GeneReviews

no assertion criteria provided

benign
(Feb 6, 2003)

not provided

curation

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	not provided	not provided	curation

Details of each submission

From GeneReviews, SCV000041060.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Converted during submission to Benign.

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

Allele description [Variation Report for NM_004085.4(TIMM8A):c.*503_*505dup]