NM_001267550.2(TTN):c.11311+1341T>C AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Mar 23, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000040997.4

Allele description [Variation Report for NM_001267550.2(TTN):c.11311+1341T>C]

NM_001267550.2(TTN):c.11311+1341T>C

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+1341T>C
HGVS:
  • NC_000002.12:g.178751783A>G
  • NG_011618.3:g.84020T>C
  • NM_001256850.1:c.10360+1341T>C
  • NM_001267550.2:c.11311+1341T>CMANE SELECT
  • NM_003319.4:c.10222+1341T>C
  • NM_133378.4:c.10360+1341T>C
  • NM_133379.5:c.10617T>C
  • NM_133432.3:c.10597+1341T>C
  • NM_133437.4:c.10798+1341T>C
  • NP_596870.2:p.His3539=
  • LRG_391:g.84020T>C
  • NC_000002.11:g.179616510A>G
  • NM_133379.3:c.10617T>C
  • c.10617T>C
  • p.His3539His
Links:
dbSNP: rs200284932
NCBI 1000 Genomes Browser:
rs200284932
Molecular consequence:
  • NM_001256850.1:c.10360+1341T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001267550.2:c.11311+1341T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.10222+1341T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.10360+1341T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.10597+1341T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.10798+1341T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133379.5:c.10617T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

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
SCV000064688Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Jul 24, 2012)
germlineclinical testing

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

SCV000515084GeneDxcriteria provided, single submitter
Benign
(Aug 27, 2015)
germlineclinical testing

Citation Link,

SCV000707092EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Mar 23, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlinenot provided22not providednot providednot providedclinical testing
not providedgermlineyesnot 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, SCV000064688.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

His3539His in exon 45A of TTN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.1% (6/7020) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS). His3539His in exon 45A of TTN (al lele frequency = 0.1%, 6/7020) **

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

From GeneDx, SCV000515084.4

#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 EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000707092.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 7, 2021

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