NM_001267550.2(TTN):c.57544+7dup AND not specified

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Oct 17, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000222617.2

Allele description [Variation Report for NM_001267550.2(TTN):c.57544+7dup]

NM_001267550.2(TTN):c.57544+7dup

Genes:
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.57544+7dup
HGVS:
  • NC_000002.12:g.178597531dup
  • NG_011618.3:g.238272dup
  • NG_051363.1:g.79705dup
  • NM_001256850.1:c.52621+7dup
  • NM_001267550.2:c.57544+7dupMANE SELECT
  • NM_003319.4:c.30349+7dup
  • NM_133378.4:c.49840+7dup
  • NM_133432.3:c.30724+7dup
  • NM_133437.4:c.30925+7dup
  • LRG_391:g.238272dup
  • NC_000002.11:g.179462258dup
  • NM_001267550.2:c.57544+7dupAMANE SELECT
  • NM_133378.4:c.49840+7dupA
Links:
dbSNP: rs750881309
NCBI 1000 Genomes Browser:
rs750881309
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000271041Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Jun 30, 2015)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002014952Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Oct 17, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000271041.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

c.49840+7_49840+8insA in intron 243 of TTN: This variant is not expected to have clinical significance because it is not located within the splice consensus seq uence. It has been identified in 2/43244 European chromosomes by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002014952.1

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

Last Updated: Nov 27, 2021

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