NM_001267550.2(TTN):c.12405del (p.Asn4135fs) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 9, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000184415.1

Allele description [Variation Report for NM_001267550.2(TTN):c.12405del (p.Asn4135fs)]

NM_001267550.2(TTN):c.12405del (p.Asn4135fs)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.12405del (p.Asn4135fs)
HGVS:
  • NC_000002.12:g.178740828del
  • NG_011618.3:g.94975del
  • NM_001256850.1:c.11454del
  • NM_001267550.2:c.12405delMANE SELECT
  • NM_003319.4:c.11316del
  • NM_133378.4:c.10361-2468del
  • NM_133432.3:c.11691del
  • NM_133437.4:c.11892del
  • NP_001243779.1:p.Asn3818fs
  • NP_001254479.2:p.Asn4135fs
  • NP_003310.4:p.Asn3772fs
  • NP_597676.3:p.Asn3897fs
  • NP_597681.4:p.Asn3964fs
  • LRG_391:g.94975del
  • NC_000002.11:g.179605555del
  • NC_000002.11:g.179605555delA
  • NM_001256850.1:c.11454delT
  • NM_003319.4:c.11316delT
  • NM_133432.3:c.11691delT
  • p.Asn3897LysfsX33
  • p.N3818KfsX33
Protein change:
N3772fs
Links:
dbSNP: rs727503658
NCBI 1000 Genomes Browser:
rs727503658
Molecular consequence:
  • NM_001256850.1:c.11454del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001267550.2:c.12405del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003319.4:c.11316del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133432.3:c.11691del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133437.4:c.11892del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133378.4:c.10361-2468del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000237040GeneDxcriteria provided, single submitter
Uncertain significance
(Oct 9, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000237040.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

c.11454delT: p.Asn3818LysfsX33 (N3818KfsX33) in exon 46 of the TTN gene (NM_001256850.1). The normal sequence with the base that is deleted in braces is: TCAA{T}GGCA. A variant of unknown significance has been identified in the TTN gene. The c.11454delT variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.11454delT variant causes a shift in reading frame starting at codon Asparagine 3818, changing it to a Lysine, and creating a premature stop codon at position 33 of the new reading frame, denoted p.Asn3818LysfsX33. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. However, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles (Herman D et al., 2012). Furthermore, c.11454delT is not located in the A-band region of titin, where the majority of truncating mutations associated with DCM have been reported (Herman D et al., 2012). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).

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

Last Updated: Jul 29, 2021

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