NM_000159.4(GCDH):c.*288G>T AND Glutaric acidemia

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000336585.1

Allele description [Variation Report for NM_000159.4(GCDH):c.*288G>T]

NM_000159.4(GCDH):c.*288G>T

Genes:
GCDH:glutaryl-CoA dehydrogenase [Gene - OMIM - HGNC]
SYCE2:synaptonemal complex central element protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_000159.4(GCDH):c.*288G>T
HGVS:
  • NC_000019.10:g.12899829G>T
  • NG_009292.1:g.13670G>T
  • NG_033049.1:g.24444C>A
  • NM_000159.4:c.*288G>TMANE SELECT
  • NM_001105578.2:c.612+175C>AMANE SELECT
  • NM_013976.4:c.*86G>T
  • NC_000019.9:g.13010643G>T
  • NM_000159.3:c.*288G>T
  • NR_102316.1:n.1768G>T
  • NR_102317.1:n.1986G>T
Links:
dbSNP: rs9384
NCBI 1000 Genomes Browser:
rs9384
Molecular consequence:
  • NM_000159.4:c.*288G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_013976.4:c.*86G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001105578.2:c.612+175C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NR_102316.1:n.1768G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_102317.1:n.1986G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Glutaric acidemia
Identifiers:
MedGen: C4025603; Human Phenotype Ontology: HP:0003530

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000410876Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000410876.2

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

Last Updated: Aug 17, 2021

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