NM_152783.5(D2HGDH):c.1027del (p.Ser343fs) AND D-2-hydroxyglutaric aciduria

Clinical significance:Pathogenic (Last evaluated: May 19, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000192342.1

Allele description [Variation Report for NM_152783.5(D2HGDH):c.1027del (p.Ser343fs)]

NM_152783.5(D2HGDH):c.1027del (p.Ser343fs)

Gene:
D2HGDH:D-2-hydroxyglutarate dehydrogenase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
NM_152783.5(D2HGDH):c.1027del (p.Ser343fs)
HGVS:
  • NC_000002.12:g.241751275del
  • NG_012012.1:g.21661del
  • NM_001287249.2:c.625del
  • NM_001352824.2:c.466del
  • NM_152783.5:c.1027delMANE SELECT
  • NP_001274178.1:p.Ser209fs
  • NP_001339753.1:p.Ser156fs
  • NP_689996.4:p.Ser343fs
  • NC_000002.11:g.242690690del
  • NM_152783.3:c.1027del
Protein change:
S156fs
Links:
dbSNP: rs797045506
NCBI 1000 Genomes Browser:
rs797045506
Molecular consequence:
  • NM_001287249.2:c.625del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001352824.2:c.466del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_152783.5:c.1027del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
D-2-hydroxyglutaric aciduria
Identifiers:
MONDO: MONDO:0010924; MedGen: C1833429; OMIM: PS600721; Human Phenotype Ontology: HP:0012321

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000247143Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Pathogenic
(May 19, 2014)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000247143.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

Support Center