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NM_001368067.1(LDB3):c.440C>T (p.Ala147Val) AND Cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 2, 2017
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:
RCV000769277.2

Allele description [Variation Report for NM_001368067.1(LDB3):c.440C>T (p.Ala147Val)]

NM_001368067.1(LDB3):c.440C>T (p.Ala147Val)

Genes:
LDB3:LIM domain binding 3 [Gene - OMIM - HGNC]
LOC110121486:VISTA enhancer hs2143 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.2
Genomic location:
Preferred name:
NM_001368067.1(LDB3):c.440C>T (p.Ala147Val)
HGVS:
  • NC_000010.11:g.86687164C>T
  • NG_008876.1:g.23601C>T
  • NG_054099.1:g.3193C>T
  • NM_001080114.2:c.440C>T
  • NM_001080115.2:c.690-4732C>T
  • NM_001080116.1:c.440C>T
  • NM_001171610.2:c.785C>T
  • NM_001171611.2:c.785C>T
  • NM_001368063.1:c.690-4732C>T
  • NM_001368064.1:c.690-4732C>T
  • NM_001368065.1:c.690-4732C>T
  • NM_001368066.1:c.440C>T
  • NM_001368067.1:c.440C>T
  • NM_001368068.1:c.440C>T
  • NM_007078.3:c.690-4732C>TMANE SELECT
  • NP_001073583.1:p.Ala147Val
  • NP_001073585.1:p.Ala147Val
  • NP_001165081.1:p.Ala262Val
  • NP_001165082.1:p.Ala262Val
  • NP_001354995.1:p.Ala147Val
  • NP_001354996.1:p.Ala147Val
  • NP_001354997.1:p.Ala147Val
  • LRG_385t1:c.690-4732C>T
  • LRG_385t2:c.440C>T
  • LRG_385:g.23601C>T
  • LRG_385p2:p.Ala147Val
  • NC_000010.10:g.88446921C>T
  • NM_007078.2:c.690-4732C>T
Protein change:
A147V
Links:
dbSNP: rs281865143
NCBI 1000 Genomes Browser:
rs281865143
Molecular consequence:
  • NM_001080115.2:c.690-4732C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368063.1:c.690-4732C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368064.1:c.690-4732C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368065.1:c.690-4732C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007078.3:c.690-4732C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001080114.2:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001080116.1:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171610.2:c.785C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171611.2:c.785C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368066.1:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368067.1:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368068.1:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
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
SCV000900653CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Aug 2, 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, SCV000900653.1

#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: Jul 29, 2023