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NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV002508917.9

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)]

NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)

Gene:
MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)
HGVS:
  • NC_000011.10:g.47332128_47332145dup
  • NC_000011.9:g.47353679_47353696dupCAGACATAGATGCCCCCG
  • NG_007667.1:g.25559_25576dup
  • NM_000256.3:c.3742_3759dupMANE SELECT
  • NM_000256.3:c.3742_3759dupGGGGGCATCTATGTCTGC
  • NP_000247.2:p.Gly1248_Cys1253dup
  • LRG_386t1:c.3742_3759dup
  • LRG_386:g.25559_25576dup
  • LRG_386p1:p.Gly1248_Cys1253dup
  • NC_000011.10:g.47332126_47332127insGCAGACATAGATGCCCCC
  • NC_000011.9:g.47353677_47353678insGCAGACATAGATGCCCCC
  • NC_000011.9:g.47353679_47353696dup
  • NC_000011.9:g.47353679_47353696dup
  • NC_000011.9:g.47353679_47353696dupCAGACATAGATGCCCCCG
  • NM_000256.3:c.3742_3759dup18MANE SELECT
  • NM_000256.3:c.3742_3759dupGGGGGCATCTATGTCTGCMANE SELECT
  • p.G1248_C1253dup
  • p.Gly1248_Cys1253dup
Links:
OMIM: 600958.0002; dbSNP: rs193922384
NCBI 1000 Genomes Browser:
rs193922384
Molecular consequence:
  • NM_000256.3:c.3742_3759dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644
Name:
Hypertrophic cardiomyopathy 4
Synonyms:
Familial hypertrophic cardiomyopathy 4
Identifiers:
MONDO: MONDO:0007268; MedGen: C1861862; OMIM: 115197
Name:
Left ventricular noncompaction 1 (LVNC1)
Synonyms:
LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS
Identifiers:
MONDO: MONDO:0011403; MedGen: C1858725; Orphanet: 54260; OMIM: 604169

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002818397GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV002818397.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant classified as Pathogenic and reported on 11-03-2021 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Nov 24, 2024