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NM_000108.5(DLD):c.685G>T (p.Gly229Cys) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 7, 2014
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000624277.10

Allele description [Variation Report for NM_000108.5(DLD):c.685G>T (p.Gly229Cys)]

NM_000108.5(DLD):c.685G>T (p.Gly229Cys)

Gene:
DLD:dihydrolipoamide dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.1
Genomic location:
Preferred name:
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)
Other names:
p.G229C:GGT>TGT
HGVS:
  • NC_000007.14:g.107915506G>T
  • NG_008045.1:g.29366G>T
  • NM_000108.5:c.685G>TMANE SELECT
  • NM_001289750.1:c.388G>T
  • NM_001289751.1:c.616G>T
  • NM_001289752.1:c.541G>T
  • NP_000099.2:p.Gly229Cys
  • NP_000099.2:p.Gly229Cys
  • NP_001276679.1:p.Gly130Cys
  • NP_001276680.1:p.Gly206Cys
  • NP_001276681.1:p.Gly181Cys
  • NC_000007.13:g.107555951G>T
  • NM_000108.3:c.685G>T
  • NM_000108.4:c.685G>T
  • P09622:p.Gly229Cys
  • c.685G>T (p.Gly229Cys)
Protein change:
G130C; GLY229CYS
Links:
UniProtKB: P09622#VAR_015820; OMIM: 238331.0006; dbSNP: rs121964990
NCBI 1000 Genomes Browser:
rs121964990
Molecular consequence:
  • NM_000108.5:c.685G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289750.1:c.388G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289751.1:c.616G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289752.1:c.541G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000741904Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))
Pathogenic
(Sep 7, 2014)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Ashkenazi Jewishgermlineyes1not providednot provided1not providedclinical testing
Caucasian/Polish/German/Irish/Italian/French Canadian Indian/Native Americangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Scott SA, Edelmann L, Liu L, Luo M, Desnick RJ, Kornreich R.

Hum Mutat. 2010 Nov;31(11):1240-50. doi: 10.1002/humu.21327.

PubMed [citation]
PMID:
20672374
PMCID:
PMC2970726

Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy.

Hong YS, Korman SH, Lee J, Ghoshal P, Wu Q, Barash V, Kang S, Oh S, Kwon M, Gutman A, Rachmel A, Patel MS.

J Inherit Metab Dis. 2003;26(8):816-8.

PubMed [citation]
PMID:
14765544
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000741904.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Ashkenazi Jewish1not providednot providedclinical testing PubMed (5)
2Caucasian/Polish/German/Irish/Italian/French Canadian Indian/Native American1not providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided

Last Updated: May 19, 2024