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NM_004085.4(TIMM8A):c.90G>A (p.Gln30=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 24, 2018
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:
RCV002372548.2

Allele description [Variation Report for NM_004085.4(TIMM8A):c.90G>A (p.Gln30=)]

NM_004085.4(TIMM8A):c.90G>A (p.Gln30=)

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.90G>A (p.Gln30=)
HGVS:
  • NC_000023.11:g.101348575C>T
  • NG_009616.1:g.42650G>A
  • NG_011734.1:g.5395G>A
  • NM_001145951.2:c.90G>A
  • NM_004085.4:c.90G>AMANE SELECT
  • NP_001139423.1:p.Gln30=
  • NP_004076.1:p.Gln30=
  • LRG_128:g.42650G>A
  • NC_000023.10:g.100603563C>T
  • NC_000023.10:g.100603563C>T
  • NM_004085.3:c.90G>A
Links:
dbSNP: rs143860818
NCBI 1000 Genomes Browser:
rs143860818
Molecular consequence:
  • NM_001145951.2:c.90G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004085.4:c.90G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002687001Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 24, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002687001.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024