NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) AND not specified

Clinical significance:Likely benign (Last evaluated: Jul 17, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000145791.4

Allele description [Variation Report for NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr)]

NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr)

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.1276G>A (p.Ala426Thr)
HGVS:
  • NC_000002.12:g.241755984G>A
  • NG_012012.1:g.26370G>A
  • NM_001287249.2:c.874G>A
  • NM_001352824.2:c.715G>A
  • NM_152783.5:c.1276G>AMANE SELECT
  • NP_001274178.1:p.Ala292Thr
  • NP_001339753.1:p.Ala239Thr
  • NP_689996.4:p.Ala426Thr
  • NC_000002.11:g.242695399G>A
  • NM_152783.3:c.1276G>A
  • NM_152783.4:c.1276G>A
  • NR_109778.2:n.1147G>A
Protein change:
A239T
Links:
dbSNP: rs146578303
NCBI 1000 Genomes Browser:
rs146578303
Molecular consequence:
  • NM_001287249.2:c.874G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352824.2:c.715G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152783.5:c.1276G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_109778.2:n.1147G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000192928Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Likely benign
(Apr 28, 2015)
germlineclinical testing

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

SCV000864338Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospitalcriteria provided, single submitter
Likely benign
(Jul 17, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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, SCV000192928.2

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

From Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital, SCV000864338.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

BS1, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).

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

Last Updated: Oct 6, 2021

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