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NM_213595.4(ISCU):c.445G>A (p.Ala149Thr) AND Myopathy

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001553539.1

Allele description [Variation Report for NM_213595.4(ISCU):c.445G>A (p.Ala149Thr)]

NM_213595.4(ISCU):c.445G>A (p.Ala149Thr)

Gene:
ISCU:iron-sulfur cluster assembly enzyme [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.3
Genomic location:
Preferred name:
NM_213595.4(ISCU):c.445G>A (p.Ala149Thr)
HGVS:
  • NC_000012.12:g.108568857G>A
  • NG_011857.1:g.11340G>A
  • NM_001301140.1:c.*66G>A
  • NM_001301141.1:c.*71G>A
  • NM_001320042.1:c.*1153G>A
  • NM_014301.4:c.370G>A
  • NM_213595.4:c.445G>AMANE SELECT
  • NP_055116.1:p.Ala124Thr
  • NP_998760.1:p.Ala149Thr
  • NC_000012.11:g.108962633G>A
  • NC_000012.11:g.108962633G>A
  • NR_135127.1:n.1801G>A
Protein change:
A124T
Links:
dbSNP: rs750338671
NCBI 1000 Genomes Browser:
rs750338671
Molecular consequence:
  • NM_001301140.1:c.*66G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001301141.1:c.*71G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001320042.1:c.*1153G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_014301.4:c.370G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_213595.4:c.445G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_135127.1:n.1801G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Myopathy
Synonyms:
Muscle disorders
Identifiers:
MONDO: MONDO:0005336; MeSH: D009135; MedGen: C0026848; Human Phenotype Ontology: HP:0003198

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001774425Institute of Human Genetics, University of Wuerzburg
no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics, University of Wuerzburg, SCV001774425.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024