NM_032861.4(SERAC1):c.308_311del (p.Arg103fs) AND 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001261649.1

Allele description [Variation Report for NM_032861.4(SERAC1):c.308_311del (p.Arg103fs)]

NM_032861.4(SERAC1):c.308_311del (p.Arg103fs)

Gene:
SERAC1:serine active site containing 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6q25.3
Genomic location:
Preferred name:
NM_032861.4(SERAC1):c.308_311del (p.Arg103fs)
HGVS:
  • NC_000006.12:g.158148911_158148914del
  • NG_032889.1:g.24369_24372del
  • NM_032861.4:c.308_311delMANE SELECT
  • NP_116250.3:p.Arg103fs
  • NC_000006.11:g.158569943_158569946del
  • NM_032861.3:c.308_311delGAAA
  • NR_073096.2:n.432_435del
Protein change:
R103fs
Molecular consequence:
  • NM_032861.4:c.308_311del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_073096.2:n.432_435del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
3

Condition(s)

Name:
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)
Synonyms:
3-METHYLGLUTACONIC ACIDURIA, TYPE VI; 3-METHYLGLUTACONIC ACIDURIA WITH DYSTONIA-DEAFNESS, HEPATOPATHY, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL syndrome
Identifiers:
MONDO: MONDO:0013875; MedGen: C3553597; Orphanet: 352328; OMIM: 614739

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001438948Pathology and Clinical Laboratory Medicine,King Fahad Medical Citycriteria provided, single submitter
Likely pathogenicgermlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Arabgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From Pathology and Clinical Laboratory Medicine,King Fahad Medical City, SCV001438948.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Arab3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Oct 7, 2021

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