NM_001267550.2(TTN):c.11311+4802T>C AND not specified

Clinical significance:Likely benign (Last evaluated: Nov 15, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000155002.3

Allele description [Variation Report for NM_001267550.2(TTN):c.11311+4802T>C]

NM_001267550.2(TTN):c.11311+4802T>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+4802T>C
HGVS:
  • NC_000002.12:g.178748322A>G
  • NG_011618.3:g.87481T>C
  • NM_001256850.1:c.10360+4802T>C
  • NM_001267550.2:c.11311+4802T>CMANE SELECT
  • NM_003319.4:c.10222+4802T>C
  • NM_133378.4:c.10360+4802T>C
  • NM_133379.5:c.14078T>C
  • NM_133432.3:c.10597+4802T>C
  • NM_133437.4:c.10798+4802T>C
  • NP_596870.2:p.Ile4693Thr
  • LRG_391:g.87481T>C
  • NC_000002.11:g.179613049A>G
  • NM_133379.3:c.14078T>C
Protein change:
I4693T
Links:
dbSNP: rs139486133
NCBI 1000 Genomes Browser:
rs139486133
Molecular consequence:
  • NM_001256850.1:c.10360+4802T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001267550.2:c.11311+4802T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.10222+4802T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.10360+4802T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.10597+4802T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.10798+4802T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133379.5:c.14078T>C - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000204684Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Nov 15, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided32not 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, SCV000204684.5

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

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided2not provided

Last Updated: Nov 27, 2021

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