NM_004415.3(DSP):c.1384_1386delATT (p.Ile462del)

Variation ID: Help
36017
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Likely pathogenic
Last evaluated:
Aug 18, 2011
Number of submission(s):
1
Condition(s):
Cardiomyopathy[MedGen - Orphanet]
See supporting ClinVar records

Allele(s) Help

NM_004415.3(DSP):c.1384_1386delATT (p.Ile462del)

Allele ID:
44681
Variant type:
Deletion
Cytogenetic location:
6p24
Genomic location:
  • Chr6: 7568554 - 7568556 (on Assembly GRCh38)
  • Chr6: 7568787 - 7568789 (on Assembly GRCh37)
Protein change:
I462del
HGVS:
  • NG_008803.1:g.31918_31920delATT
  • NM_004415.3:c.1384_1386delATT
  • NP_004406.2:p.Ile462del
  • NC_000006.12:g.7568554_7568556delATT (GRCh38)
  • LRG_423t1:c.1384_1386delATT
  • NC_000006.11:g.7568787_7568789delATT (GRCh37)
  • NM_004415.2:c.1384_1386delATT
  • LRG_423p1:p.Ile462del
  • LRG_423:g.31918_31920delATT
Links:
dbSNP: 193922668
NCBI 1000 Genomes Browser:
rs193922668
Molecular consequence:
NM_004415.3:c.1384_1386delATT: inframe_variant [Sequence Ontology SO:0001650]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

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
(Aug 18, 2011)
criteria provided, single submitter
literature onlygermline
    Laboratory Corporation of America,SCV000052328.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Laboratory Corporation of America,not provided1germlinenot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Jun 24, 2017