NM_007078.3(LDB3):c.1609del (p.Gln537fs) AND Cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Jul 26, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000769290.1

Allele description [Variation Report for NM_007078.3(LDB3):c.1609del (p.Gln537fs)]

NM_007078.3(LDB3):c.1609del (p.Gln537fs)

Gene:
LDB3:LIM domain binding 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q23.2
Genomic location:
Preferred name:
NM_007078.3(LDB3):c.1609del (p.Gln537fs)
HGVS:
  • NC_000010.10:g.88476460del
  • NC_000010.11:g.86716704del
  • NG_008876.1:g.53141del
  • NM_001080114.2:c.1279del
  • NM_001171610.2:c.1624del
  • NM_001368064.1:c.1420del
  • NM_001368065.1:c.1420del
  • NM_001368066.1:c.1468del
  • NM_007078.3:c.1609delMANE SELECT
  • NP_001073583.1:p.Gln427fs
  • NP_001165081.1:p.Gln542fs
  • NP_001354993.1:p.Gln474fs
  • NP_001354994.1:p.Gln474fs
  • NP_001354995.1:p.Gln490fs
  • NP_009009.1:p.Gln537fs
  • LRG_385t1:c.1609del
  • LRG_385:g.53141del
  • NC_000010.10:g.88476460del
  • NC_000010.10:g.88476461del
  • NC_000010.10:g.88476461delC
  • NM_007078.2:c.1609delC
  • p.Gln537ArgfsX28
Protein change:
Q427fs
Links:
dbSNP: rs727503129
NCBI 1000 Genomes Browser:
rs727503129
Molecular consequence:
  • NM_001080114.2:c.1279del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001171610.2:c.1624del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368064.1:c.1420del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368065.1:c.1420del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368066.1:c.1468del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007078.3:c.1609del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000900668CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repositorycriteria provided, single submitter
Uncertain significance
(Jul 26, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot 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 CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository, SCV000900668.1

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

Last Updated: Nov 27, 2021

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