NM_001267550.2(TTN):c.26762-9A>G AND not specified

Clinical significance:Uncertain significance (Last evaluated: Oct 1, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000214580.1

Allele description [Variation Report for NM_001267550.2(TTN):c.26762-9A>G]

NM_001267550.2(TTN):c.26762-9A>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.26762-9A>G
HGVS:
  • NC_000002.12:g.178713381T>C
  • NG_011618.3:g.122422A>G
  • NM_001256850.1:c.25811-9A>G
  • NM_001267550.2:c.26762-9A>GMANE SELECT
  • NM_003319.4:c.13282+24701A>G
  • NM_133378.4:c.23030-9A>G
  • NM_133432.3:c.13657+24701A>G
  • NM_133437.4:c.13858+24701A>G
  • LRG_391:g.122422A>G
  • NC_000002.11:g.179578108T>C
Links:
dbSNP: rs200821070
NCBI 1000 Genomes Browser:
rs200821070
Molecular consequence:
  • NM_001256850.1:c.25811-9A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001267550.2:c.26762-9A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.13282+24701A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.23030-9A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+24701A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+24701A>G - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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
SCV000272600Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Oct 1, 2015)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not 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, SCV000272600.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The c.23030-9A>G variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is located in t he 3' splice region. Computational tools do not suggest an impact to splicing. H owever, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.23030-9A>G variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Nov 27, 2021

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