NM_001267550.2(TTN):c.11312-5194_11312-5162dup AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Aug 1, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
5 submissions [Details]
Record status:
current
Accession:
RCV000786262.8

Allele description [Variation Report for NM_001267550.2(TTN):c.11312-5194_11312-5162dup]

NM_001267550.2(TTN):c.11312-5194_11312-5162dup

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.11312-5194_11312-5162dup
Other names:
p.Thr5102_Glu5112dup; p.Glu5112_Ala5113insThrLeuGluArgTyrSerThrProProGlyGlu
HGVS:
  • NC_000002.12:g.178747087_178747119dup
  • NG_011618.3:g.88688_88720dup
  • NM_001256850.1:c.10361-5194_10361-5162dup
  • NM_001267550.2:c.11312-5194_11312-5162dupMANE SELECT
  • NM_003319.4:c.10223-5194_10223-5162dup
  • NM_133378.4:c.10360+6009_10360+6041dup
  • NM_133379.5:c.15285_15317dup
  • NM_133432.3:c.10598-5194_10598-5162dup
  • NM_133437.4:c.10799-5194_10799-5162dup
  • NP_596870.2:p.5058TLERYSTPPGE[6]
  • LRG_391:g.88688_88720dup
  • NC_000002.11:g.179611809_179611810insTATCGCTCTAGAGTCTCTCCTGGGGGTGTGGAG
  • NC_000002.11:g.179611814_179611846dup
  • NM_133379.3:c.15285_15317dup
  • c.15285_15317dup
Links:
dbSNP: rs397517815
NCBI 1000 Genomes Browser:
rs397517815
Molecular consequence:
  • NM_133379.5:c.15285_15317dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001256850.1:c.10361-5194_10361-5162dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001267550.2:c.11312-5194_11312-5162dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.10223-5194_10223-5162dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.10360+6009_10360+6041dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.10598-5194_10598-5162dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.10799-5194_10799-5162dup - intron variant - [Sequence Ontology: SO:0001627]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000925013Stanford Center for Inherited Cardiovascular Disease, Stanford Universityno assertion criteria providedUncertain significance
(Jul 27, 2016)
germlineprovider interpretation

SCV001334681CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Aug 1, 2021)
germlineclinical testing

Citation Link,

SCV001800155Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

SCV001847297GeneDxcriteria provided, single submitter
Benign
(Oct 23, 2019)
germlineclinical testing

Citation Link,

SCV001953317Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From Stanford Center for Inherited Cardiovascular Disease, Stanford University, SCV000925013.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided

Description

p.Thr5102_Glu5112dup (T5102_E5112dup, c.15285_15317dup33:) in exon 46 of the TTN gene (NM_133379.3, alternate transcript). Seen in a patient in our center with LVNC and reduced systolic function. Given the location, lack of case data, and frequency in ExAC, we consider this variant a variant of uncertain significance, probably benign and we do not feel it is suitable for assessing risk in healthy relatives ("predictive genetic testing"). The variant has not been reported in association with disease. Based on the genomic position (hg19 ) and https://cardiodb.org/titin/ it appears the variant is in the I-band distant from the A band. To date it appears that pathogenic variants in TTN are in the A band (or the I band near the A band). ExAC: 0.6% (376/66452) European chromosomes.

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001334681.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001800155.1

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

From GeneDx, SCV001847297.1

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

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001953317.1

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

Last Updated: Nov 27, 2021

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