NM_001267550.2(TTN):c.11311+2465C>G AND not specified

Clinical significance:Benign (Last evaluated: Mar 20, 2015)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000041007.7

Allele description [Variation Report for NM_001267550.2(TTN):c.11311+2465C>G]

NM_001267550.2(TTN):c.11311+2465C>G

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.11311+2465C>G
Other names:
p.T3914R:ACA>AGA
HGVS:
  • NC_000002.12:g.178750659G>C
  • NG_011618.3:g.85144C>G
  • NM_001256850.1:c.10360+2465C>G
  • NM_001267550.2:c.11311+2465C>GMANE SELECT
  • NM_003319.4:c.10222+2465C>G
  • NM_133378.4:c.10360+2465C>G
  • NM_133379.5:c.11741C>G
  • NM_133432.3:c.10597+2465C>G
  • NM_133437.4:c.10798+2465C>G
  • NP_596870.2:p.Thr3914Arg
  • LRG_391:g.85144C>G
  • NC_000002.11:g.179615386G>C
  • NM_133379.3:c.11741C>G
  • c.11741C>G
Protein change:
T3914R
Links:
dbSNP: rs116593093
NCBI 1000 Genomes Browser:
rs116593093
Molecular consequence:
  • NM_001256850.1:c.10360+2465C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001267550.2:c.11311+2465C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.10222+2465C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.10360+2465C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.10597+2465C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.10798+2465C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133379.5:c.11741C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

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
SCV000051496Biesecker Lab/Clinical Genomics Section,National Institutes of Health - ClinSeqcriteria provided, single submitter
Benign
(Jun 24, 2013)
unknownresearch

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

SCV000064698Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Mar 20, 2015)
germlineclinical testing

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

SCV000169551GeneDxcriteria provided, single submitter
Benign
(May 12, 2014)
germlineclinical testing

Citation Link,

SCV001739935Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedBenigngermlineclinical testing

Description

The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for details.

SCV000051496

Medical sequencing

SCV000051496

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided33not providednot providednot providedclinical testing
not providedunknownunknown3not providednot providednot providednot providedresearch

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]
PMID:
23861362
PMCID:
PMC3887521

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 Biesecker Lab/Clinical Genomics Section,National Institutes of Health - ClinSeq, SCV000051496.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided3not providednot providednot provided

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000064698.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

Thr3914Arg in exon 45A of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 1.1% (106/10028) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs116593093).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided3not provided

From GeneDx, SCV000169551.11

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001739935.3

#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: Sep 7, 2021

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