NM_133432.3(TTN):c.40155_40158delCAAA (p.Lys13386Metfs) AND Left ventricular noncompaction cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: Sep 24, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000143971.2

Allele description

NM_133432.3(TTN):c.40155_40158delCAAA (p.Lys13386Metfs)

Genes:
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_133432.3(TTN):c.40155_40158delCAAA (p.Lys13386Metfs)
HGVS:
  • NC_000002.12:g.178580401_178580404delTTTG
  • NG_011618.3:g.255399_255402delCAAA
  • NM_001267550.2:c.66975_66978delCAAA
  • NM_133432.3:c.40155_40158delCAAA
  • NP_001254479.2:p.Lys22326Metfs
  • NP_597676.3:p.Lys13386Metfs
  • LRG_391:g.255399_255402delCAAA
  • NC_000002.11:g.179445128_179445131delTTTG
Links:
dbSNP: rs587782986
NCBI 1000 Genomes Browser:
rs587782986
Molecular consequence:
  • NM_001267550.2:c.66975_66978delCAAA - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Left ventricular noncompaction cardiomyopathy
Synonyms:
Left ventricular non-compaction cardiomyopathy
Identifiers:
MedGen: C4021133; Human Phenotype Ontology: HP:0011664

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000188852Blueprint Geneticscriteria provided, single submitter
Likely pathogenic
(Sep 24, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000188852.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 23, 2017