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NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) AND not specified

Germline classification:
Benign/Likely benign (9 submissions)
Last evaluated:
Aug 18, 2020
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000040744.34

Allele description [Variation Report for NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr)]

NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr)

Genes:
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr)
Other names:
p.I27755T:ATC>ACC
HGVS:
  • NC_000002.12:g.178556967A>G
  • NG_011618.3:g.278836T>C
  • NG_051363.1:g.39141A>G
  • NM_001256850.1:c.83264T>C
  • NM_001267550.2:c.88187T>CMANE SELECT
  • NM_003319.4:c.60992T>C
  • NM_133378.4:c.80483T>C
  • NM_133432.3:c.61367T>C
  • NM_133437.4:c.61568T>C
  • NP_001243779.1:p.Ile27755Thr
  • NP_001254479.1:p.Ile29396Thr
  • NP_001254479.2:p.Ile29396Thr
  • NP_003310.4:p.Ile20331Thr
  • NP_596869.4:p.Ile26828Thr
  • NP_597676.3:p.Ile20456Thr
  • NP_597681.4:p.Ile20523Thr
  • LRG_391t1:c.88187T>C
  • LRG_391:g.278836T>C
  • LRG_391p1:p.Ile29396Thr
  • NC_000002.11:g.179421694A>G
  • NM_001267550.1:c.88187T>C
  • NM_001267550.2:c.88187T>C
  • NM_133379.3:c.*188618T>C
  • c.80483T>C
Protein change:
I20331T
Links:
dbSNP: rs9808377
NCBI 1000 Genomes Browser:
rs9808377
Molecular consequence:
  • NM_001256850.1:c.83264T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.88187T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.60992T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.80483T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.61367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.61568T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
938

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
SCV000051733Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq
criteria provided, single submitter

(Ng et al. (Circ Cardiovasc Genet. 2013))
Benign
(Jun 24, 2013)
unknownresearch

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

SCV000064435Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Benign
(Sep 27, 2011)
germlineclinical testing

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

SCV000153377Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2007)
Benign
(Aug 15, 2013)
germlineclinical testing

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

SCV000169402GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Benign
(Oct 31, 2012)
germlineclinical testing

Citation Link,

SCV000228591Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Benign
(Dec 15, 2014)
germlineclinical testing

Citation Link,

SCV000315583PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benigngermlineclinical testing

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

SCV001360523Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Likely benign
(Aug 18, 2020)
germlineclinical testing

Citation Link,

SCV001958321Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

SCV001978815Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided945938not providednot providednot providedclinical testing
not providedunknownunknown255not providednot providednot providednot providedresearch
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
germlineunknown2not providednot providednot providednot providedclinical testing

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
See all PubMed Citations (4)

Details of each submission

From Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000051733.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided255not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided255not providednot providednot provided

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000064435.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided945not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided945not provided938not provided

From Genetic Services Laboratory, University of Chicago, SCV000153377.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV000169402.11

#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 Eurofins Ntd Llc (ga), SCV000228591.5

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

From PreventionGenetics, part of Exact Sciences, SCV000315583.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001360523.2

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

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001958321.1

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

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001978815.1

#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: Oct 13, 2024