NM_004085.4(TIMM8A):c.282C>A (p.Ser94Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 23, 2016
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:: RCV000603847.4

Allele description [Variation Report for NM_004085.4(TIMM8A):c.282C>A (p.Ser94Arg)]

NM_004085.4(TIMM8A):c.282C>A (p.Ser94Arg)

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.282C>A (p.Ser94Arg)

HGVS:

NC_000023.11:g.101346511G>T
NG_011734.1:g.7459C>A
NM_001145951.2:c.*1876C>A
NM_004085.4:c.282C>AMANE SELECT
NP_004076.1:p.Ser94Arg
NC_000023.10:g.100601499G>T
NM_004085.3:c.282C>A

Protein change:

S94R

Links:

dbSNP: rs1443740723

NCBI 1000 Genomes Browser:

rs1443740723

Molecular consequence:

NM_001145951.2:c.*1876C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_004085.4:c.282C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000712153	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (May 23, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000712153

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(May 23, 2016)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000712153.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

Description

The p.Ser94Arg variant in TIMM8A has not been previously reported in individuals with hearing loss or Mohr-Tranebjaerg syndrome or in large population studies. Computational prediction tools and conservation analysis do not provide strong s upport for or against an impact to the protein. In summary, the clinical signifi cance of the p.Ser94Arg variant is uncertain.

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

Last Updated: Dec 24, 2022

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