NM_000126.3(ETFA):c.2T>C (p.Met1Thr) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 3, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000153198.5

Allele description [Variation Report for NM_000126.3(ETFA):c.2T>C (p.Met1Thr)]

NM_000126.3(ETFA):c.2T>C (p.Met1Thr)

Gene:
ETFA:electron transfer flavoprotein subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q24.3
Genomic location:
Preferred name:
NM_000126.3(ETFA):c.2T>C (p.Met1Thr)
Other names:
p.M1T:ATG>ACG
HGVS:
  • NC_000015.10:g.76311387A>G
  • NG_007077.2:g.5083T>C
  • NM_000126.3:c.2T>C
  • NP_000117.1:p.Met1Thr
  • NC_000015.9:g.76603728A>G
Protein change:
M1T
Links:
dbSNP: rs727503918
NCBI 1000 Genomes Browser:
rs727503918
Molecular consequence:
  • NM_000126.3:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000238820GeneDxcriteria provided, single submitter
Pathogenic
(Jan 3, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000238820.10

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

Description

p.Met1Thr (ATG>ACG): c.2 T>C in exon 1 of the ETFA gene (NM_000126.3) The c.2 T>C mutation alters the initiator Methionine codon, and the resultant protein would be described as p.Met1?" using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Met. The variant is found in MITONUC-MITOP panel(s)."

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

Last Updated: Apr 17, 2019

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