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NM_001368067.1(LDB3):c.333C>G (p.Asn111Lys) AND Dilated cardiomyopathy 1C

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:
RCV001809847.1

Allele description [Variation Report for NM_001368067.1(LDB3):c.333C>G (p.Asn111Lys)]

NM_001368067.1(LDB3):c.333C>G (p.Asn111Lys)

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.333C>G (p.Asn111Lys)
HGVS:
  • NC_000010.11:g.86685689C>G
  • NG_008876.1:g.22126C>G
  • NG_054099.1:g.1718C>G
  • NM_001080114.2:c.333C>G
  • NM_001080115.2:c.689+3886C>G
  • NM_001080116.1:c.333C>G
  • NM_001171610.2:c.690-1380C>G
  • NM_001171611.2:c.690-1380C>G
  • NM_001368063.1:c.689+3886C>G
  • NM_001368064.1:c.689+3886C>G
  • NM_001368065.1:c.689+3886C>G
  • NM_001368066.1:c.333C>G
  • NM_001368067.1:c.333C>G
  • NM_001368068.1:c.333C>G
  • NM_007078.3:c.689+3886C>GMANE SELECT
  • NP_001073583.1:p.Asn111Lys
  • NP_001073585.1:p.Asn111Lys
  • NP_001354995.1:p.Asn111Lys
  • NP_001354996.1:p.Asn111Lys
  • NP_001354997.1:p.Asn111Lys
  • LRG_385t2:c.333C>G
  • LRG_385:g.22126C>G
  • LRG_385p2:p.Asn111Lys
  • NC_000010.10:g.88445446C>G
Protein change:
N111K
Links:
dbSNP: rs369470035
NCBI 1000 Genomes Browser:
rs369470035
Molecular consequence:
  • NM_001080115.2:c.689+3886C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001171610.2:c.690-1380C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001171611.2:c.690-1380C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368063.1:c.689+3886C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368064.1:c.689+3886C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368065.1:c.689+3886C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007078.3:c.689+3886C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001080114.2:c.333C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001080116.1:c.333C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368066.1:c.333C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368067.1:c.333C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368068.1:c.333C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dilated cardiomyopathy 1C (CMD1C)
Synonyms:
CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; Cardiomyopathy, dilated, 1C, with or without LVNC
Identifiers:
MONDO: MONDO:0011094; MedGen: C1832244; Orphanet: 154; Orphanet: 54260; OMIM: 601493

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002059287Centogene AG - the Rare Disease Company
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 18, 2020) 		germlineclinical testing

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

Help

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 Centogene AG - the Rare Disease Company, SCV002059287.1

#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: Apr 15, 2024