NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(2);Uncertain significance(1) (Last evaluated: Feb 22, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000725012.4

Allele description [Variation Report for NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)]

NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)
Other names:
p.T8526M:ACG>ATG
HGVS:
  • NC_000002.12:g.178714130G>A
  • NG_011618.3:g.121673C>T
  • NM_001256850.1:c.25577C>T
  • NM_001267550.2:c.26528C>TMANE SELECT
  • NM_003319.4:c.13282+23952C>T
  • NM_133378.4:c.22796C>T
  • NM_133432.3:c.13657+23952C>T
  • NM_133437.4:c.13858+23952C>T
  • NP_001243779.1:p.Thr8526Met
  • NP_001254479.2:p.Thr8843Met
  • NP_596869.4:p.Thr7599Met
  • LRG_391t1:c.26528C>T
  • LRG_391:g.121673C>T
  • NC_000002.11:g.179578857G>A
  • NM_001267550.1:c.26528C>T
  • c.22796C>T
Protein change:
T7599M
Links:
dbSNP: rs72648990
NCBI 1000 Genomes Browser:
rs72648990
Molecular consequence:
  • NM_003319.4:c.13282+23952C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+23952C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+23952C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.25577C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.26528C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.22796C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
7

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000238377GeneDxcriteria provided, single submitter
Likely benign
(Feb 22, 2021)
germlineclinical testing

Citation Link,

SCV000333200EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jul 3, 2018)
germlineclinical testing

Citation Link,

SCV001146357Athena Diagnostics Inccriteria provided, single submitter
Likely benign
(Dec 30, 2019)
unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown7not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.

Ceyhan-Birsoy O, Pugh TJ, Bowser MJ, Hynes E, Frisella AL, Mahanta LM, Lebo MS, Amr SS, Funke BH.

Mol Genet Genomic Med. 2016 Mar;4(2):143-51. doi: 10.1002/mgg3.187.

PubMed [citation]
PMID:
27066507
PMCID:
PMC4799872

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH.

Genet Med. 2014 Aug;16(8):601-8. doi: 10.1038/gim.2013.204. Epub 2014 Feb 6.

PubMed [citation]
PMID:
24503780
See all PubMed Citations (3)

Details of each submission

From GeneDx, SCV000238377.8

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

Description

This variant is associated with the following publications: (PMID: 24503780, 27066507)

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000333200.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided7not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided7not providednot providednot provided

From Athena Diagnostics Inc, SCV001146357.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 6, 2021

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