• replaced

NM_000256.3(MYBPC3):c.772+1G>A AND Familial hypertrophic cardiomyopathy 4

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000035666.5

Allele description

NM_000256.3(MYBPC3):c.772+1G>A

Gene:
MYBPC3:myosin binding protein C, cardiac [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000256.3(MYBPC3):c.772+1G>A
HGVS:
  • NC_000011.10:g.47348423C>T
  • NG_007667.1:g.9280G>A
  • NM_000256.3:c.772+1G>A
  • LRG_386t1:c.772+1G>A
  • LRG_386:g.9280G>A
  • NC_000011.9:g.47369974C>T
  • c.772+1G>A
Links:
dbSNP: 397516072
NCBI 1000 Genomes Browser:
rs397516072
Molecular consequence:
  • NM_000256.3:c.772+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Familial hypertrophic cardiomyopathy 4 (CMH4)
Identifiers:
MedGen: C1861862; OMIM: 115197

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000219664Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository (COGR)no assertion criteria provided
    Likely pathogenicgermlineclinical testing

    Summary from all submissions

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

    Details of each submission

    From Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository (COGR), SCV000219664.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Oct 3, 2016