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NM_000108.5(DLD):c.685G>T (p.Gly229Cys) AND not provided

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Oct 23, 2020
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000185853.16

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]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000238804GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Jan 27, 2020)
germlineclinical testing

Citation Link,

SCV000511508Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Dec 15, 2016)
germlineclinical testing

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

SCV001446673Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Oct 23, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot provided1not 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 GeneDx, SCV000238804.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported carrier frequency of 1 in 94 in the Ashkenazi Jewish population (Shaag et al., 1999); Functional studies of the G229C variant showed a decrease in the mitochondrial respiratory function relative to wild-type (Vaubel et al., 2011); In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect; This variant is associated with the following publications: (PMID: 24012808, 25333069, 25885067, 9934985, 20672374, 17404228, 10448086, 8968745, 30487145, 21558426, 21930696, 25356417, 23995961, 27544700, 16601893, 14765544, 24516753, 16770810, 15712224, 12925875, 9764998, 30264509, 23290025, 23478190, 31334547, 31980526, 31589614, 33083013)

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

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000511508.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.000491not providednot provided

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001446673.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024