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NM_007078.3(LDB3):c.1774G>C (p.Glu592Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 24, 2011
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:
RCV000767127.9

Allele description [Variation Report for NM_007078.3(LDB3):c.1774G>C (p.Glu592Gln)]

NM_007078.3(LDB3):c.1774G>C (p.Glu592Gln)

Gene:
LDB3:LIM domain binding 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.2
Genomic location:
Preferred name:
NM_007078.3(LDB3):c.1774G>C (p.Glu592Gln)
Other names:
p.E592Q:GAG>CAG
HGVS:
  • NC_000010.11:g.86718061G>C
  • NG_008876.1:g.54498G>C
  • NM_001080114.2:c.1444G>C
  • NM_001171610.2:c.1789G>C
  • NM_001368064.1:c.1585G>C
  • NM_001368065.1:c.1585G>C
  • NM_001368066.1:c.1633G>C
  • NM_007078.3:c.1774G>CMANE SELECT
  • NP_001073583.1:p.Glu482Gln
  • NP_001165081.1:p.Glu597Gln
  • NP_001354993.1:p.Glu529Gln
  • NP_001354994.1:p.Glu529Gln
  • NP_001354995.1:p.Glu545Gln
  • NP_009009.1:p.Glu592Gln
  • NP_009009.1:p.Glu592Gln
  • LRG_385t1:c.1774G>C
  • LRG_385:g.54498G>C
  • LRG_385p1:p.Glu592Gln
  • NC_000010.10:g.88477818G>C
  • NM_001080115.1:c.*18687G>C
  • NM_001171610.1:c.1789G>C
  • NM_007078.2:c.1774G>C
Protein change:
E482Q
Links:
dbSNP: rs727504944
NCBI 1000 Genomes Browser:
rs727504944
Molecular consequence:
  • NM_001080114.2:c.1444G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171610.2:c.1789G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368064.1:c.1585G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368065.1:c.1585G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368066.1:c.1633G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007078.3:c.1774G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000236019GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Oct 24, 2011) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000236019.10

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

Description

p.Glu592Gln (GAG>CAG): c.1774 G>C in the LDB3 gene (NM_007078.2). The Glu592Gln variant in the LDB3 gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. Glu592Gln results in a non-conservative amino acid substitution of a negatively charged Glutamic acid with a neutral, polar Glutamine at a residue that is conserved across species. In silico analysis predicts Glu592Gln is probably damaging to the protein structure/function (Adzhubei et al. 2010; Schwarz et al. 2010). However, no disease-causing mutations have been reported in this region of the LDB3 gene to date. In summary, with the clinical and molecular information available at this time, we cannot unequivocally determine whether the Glu592Gln variant is a disease-causing mutation or a benign variant. The variant is found in DCM panel(s).

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

Last Updated: Apr 20, 2024