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NM_007078.3(LDB3):c.529dup (p.Ala177fs) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 18, 2020
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:
RCV002345505.2

Allele description [Variation Report for NM_007078.3(LDB3):c.529dup (p.Ala177fs)]

NM_007078.3(LDB3):c.529dup (p.Ala177fs)

Gene:
LDB3:LIM domain binding 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
10q23.2
Genomic location:
Preferred name:
NM_007078.3(LDB3):c.529dup (p.Ala177fs)
Other names:
p.Ala177GlyfsX20
HGVS:
  • NC_000010.11:g.86681643dup
  • NG_008876.1:g.18080dup
  • NM_001080114.2:c.321+1486dup
  • NM_001080115.2:c.529dup
  • NM_001080116.1:c.321+1486dup
  • NM_001171610.2:c.529dup
  • NM_001171611.2:c.529dup
  • NM_001368063.1:c.529dup
  • NM_001368064.1:c.529dup
  • NM_001368065.1:c.529dup
  • NM_001368066.1:c.321+1486dup
  • NM_001368067.1:c.321+1486dup
  • NM_001368068.1:c.321+1486dup
  • NM_007078.3:c.529dupMANE SELECT
  • NP_001073584.1:p.Ala177fs
  • NP_001165081.1:p.Ala177fs
  • NP_001165082.1:p.Ala177fs
  • NP_001354992.1:p.Ala177fs
  • NP_001354993.1:p.Ala177fs
  • NP_001354994.1:p.Ala177fs
  • NP_009009.1:p.Ala177fs
  • LRG_385t1:c.529dup
  • LRG_385t2:c.321+1486dup
  • LRG_385:g.18080dup
  • NC_000010.10:g.88441395_88441396insG
  • NC_000010.10:g.88441400dup
  • NM_007078.2:c.529dupG
  • p.A177GfsX20
Protein change:
A177fs
Links:
dbSNP: rs730880345
NCBI 1000 Genomes Browser:
rs730880345
Molecular consequence:
  • NM_001080115.2:c.529dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001171610.2:c.529dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001171611.2:c.529dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368063.1:c.529dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368064.1:c.529dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368065.1:c.529dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007078.3:c.529dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001080114.2:c.321+1486dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001080116.1:c.321+1486dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368066.1:c.321+1486dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368067.1:c.321+1486dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368068.1:c.321+1486dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002647182Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 18, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002647182.2

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

Description

The c.529dupG variant, located in coding exon 4 of the LDB3 gene, results from a duplication of G at nucleotide position 529, causing a translational frameshift with a predicted alternate stop codon (p.A177Gfs*20). This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of LDB3 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024