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NM_000256.3(MYBPC3):c.3735delC (p.Phe1246Leufs)

Variation ID: Help
42737
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000256.3(MYBPC3):c.3735delC (p.Phe1246Leufs)

Allele ID:
51907
Variant type:
Deletion
Cytogenetic location:
11p11.2
Genomic location:
  • Chr11: 47332151 (on Assembly GRCh38)
  • Chr11: 47353702 (on Assembly GRCh37)
HGVS:
  • NG_007667.1:g.25552delC
  • NM_000256.3:c.3735delC
  • NP_000247.2:p.Phe1246Leufs
  • NC_000011.10:g.47332151delG (GRCh38)
  • LRG_386t1:c.3735delC
  • NC_000011.9:g.47353702delG (GRCh37)
  • LRG_386p1:p.Phe1246Leufs
  • LRG_386:g.25552delC
Links:
dbSNP: 397516038
NCBI 1000 Genomes Browser:
rs397516038
Molecular consequence:
NM_000256.3:c.3735delC: frameshift variant [Sequence Ontology SO:0001589]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Likely pathogenic
(Jan 31, 2018)
criteria provided, single submitter
clinical testinggermlineLaboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000059263.5
Pathogenic
(Aug 7, 2017)
criteria provided, single submitter
clinical testinggermline
    InvitaeSCV000623605.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submitters112germlinenot providednot provided
    Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change results i…Full description
    Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine112germlinenot providednot providedThe p.Phe1246LeufsExtX55 varia…Full description
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Apr 9, 2018