NM_025207.4(FLAD1):c.836delT (p.Phe279Serfs) AND Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency

Clinical significance:Pathogenic (Last evaluated: Jun 30, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000234842.1

Allele description [Variation Report for NM_025207.4(FLAD1):c.836delT (p.Phe279Serfs)]

NM_025207.4(FLAD1):c.836delT (p.Phe279Serfs)

Gene:
FLAD1:flavin adenine dinucleotide synthetase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_025207.4(FLAD1):c.836delT (p.Phe279Serfs)
HGVS:
  • NC_000001.11:g.154988568delT
  • NM_025207.4:c.836delT
  • NP_079483.3:p.Phe279Serfs
  • NC_000001.10:g.154961044delT
Links:
OMIM: 610595.0005; dbSNP: rs876661311
NCBI 1000 Genomes Browser:
rs876661311
Molecular consequence:
  • NM_025207.4:c.836delT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (LSMFLAD)
Identifiers:
MedGen: C4310822; OMIM: 255100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000292025OMIMno assertion criteria providedPathogenic
(Jun 30, 2016)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.

Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, et al.

Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. doi: 10.1016/j.ajhg.2016.04.006.

PubMed [citation]
PMID:
27259049
PMCID:
PMC4908180

Details of each submission

From OMIM, SCV000292025.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the 1-bp deletion (c.836delT, NM_025207.4) in the FLAD1 gene, resulting in a frameshift and premature termination (Phe279SerfsTer45), that was found in compound heterozygous state in a patient with lipid storage myopathy due to FLAD1 deficiency (LSMFLAD; 255100) by Olsen et al. (2016), see 610595.0003.

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

Last Updated: Mar 30, 2019

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