NM_152783.5(D2HGDH):c.423C>T (p.Pro141=) AND not specified

Clinical significance:Likely benign (Last evaluated: Mar 17, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000145800.1

Allele description [Variation Report for NM_152783.5(D2HGDH):c.423C>T (p.Pro141=)]

NM_152783.5(D2HGDH):c.423C>T (p.Pro141=)

Gene:
D2HGDH:D-2-hydroxyglutarate dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=)
HGVS:
  • NC_000002.12:g.241742507C>T
  • NG_012012.1:g.12893C>T
  • NM_001287249.2:c.21C>T
  • NM_001352824.2:c.-122C>T
  • NM_152783.5:c.423C>TMANE SELECT
  • NP_001274178.1:p.Pro7=
  • NP_689996.4:p.Pro141=
  • NC_000002.11:g.242681922C>T
  • NM_152783.3:c.423C>T
  • NM_152783.4:c.423C>T
  • NR_109778.2:n.581C>T
Links:
dbSNP: rs142473303
NCBI 1000 Genomes Browser:
rs142473303
Molecular consequence:
  • NM_001352824.2:c.-122C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_109778.2:n.581C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001287249.2:c.21C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_152783.5:c.423C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000192937Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Likely benign
(Mar 17, 2014)
germlineclinical testing

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

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed

SCV000192937

Summary from all submissions

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

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000192937.1

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

Last Updated: Sep 29, 2021

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