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NM_007078.3(LDB3):c.1573G>C (p.Gly525Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 4, 2013
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:
RCV000183538.2

Allele description [Variation Report for NM_007078.3(LDB3):c.1573G>C (p.Gly525Arg)]

NM_007078.3(LDB3):c.1573G>C (p.Gly525Arg)

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.1573G>C (p.Gly525Arg)
Other names:
p.G525R:GGT>CGT
HGVS:
  • NC_000010.11:g.86716668G>C
  • NG_008876.1:g.53105G>C
  • NM_001080114.2:c.1243G>C
  • NM_001080116.1:c.*17294G>C
  • NM_001171610.2:c.1588G>C
  • NM_001368064.1:c.1384G>C
  • NM_001368065.1:c.1384G>C
  • NM_001368066.1:c.1432G>C
  • NM_007078.3:c.1573G>CMANE SELECT
  • NP_001073583.1:p.Gly415Arg
  • NP_001165081.1:p.Gly530Arg
  • NP_001354993.1:p.Gly462Arg
  • NP_001354994.1:p.Gly462Arg
  • NP_001354995.1:p.Gly478Arg
  • NP_009009.1:p.Gly525Arg
  • LRG_385t1:c.1573G>C
  • LRG_385t2:c.*17294G>C
  • LRG_385:g.53105G>C
  • NC_000010.10:g.88476425G>C
  • NM_007078.2:c.1573G>C
Protein change:
G415R
Links:
dbSNP: rs794729063
NCBI 1000 Genomes Browser:
rs794729063
Molecular consequence:
  • NM_001080116.1:c.*17294G>C - genic downstream transcript variant - [Sequence Ontology: SO:0002152]
  • NM_001080114.2:c.1243G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171610.2:c.1588G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368064.1:c.1384G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368065.1:c.1384G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368066.1:c.1432G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007078.3:c.1573G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000236006GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Mar 4, 2013) 		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, SCV000236006.10

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

Description

p.Gly525Arg (GGT>CGT): c.1573 G>C in exon 9 of the LDB3 gene (NM_007078.2). The Gly525Arg variant in the LDB3 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Gly525Arg results in a non-conservative amino acid substitution of a non-polar Glycine with a positively charged Arginine at a position that is not well conserved across species. No mutations in nearby codons have been reported in association with cardiomyopathy, indicating this region of the protein may be tolerant of change. Nevertheless, the Gly525Arg variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. With the clinical and molecular information available at this time, we cannot definitively determine if Gly525Arg is a disease-causing mutation or a rare 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 23, 2022