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NM_001267550.2(TTN):c.65276-8T>C

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 17, 2020
Accession:
VCV000047221.5
Variation ID:
47221
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.65276-8T>C

Allele ID
56386
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178583914 (GRCh38) GRCh38 UCSC
2: 179448641 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179448641A>G
NC_000002.12:g.178583914A>G
NM_001267550.2:c.65276-8T>C MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:178583913:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00027
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00048
Trans-Omics for Precision Medicine (TOPMed) 0.00041
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00034
The Genome Aggregation Database (gnomAD), exomes 0.00015
Links
ClinGen: CA210974
dbSNP: rs377484398
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts May 27, 2016 RCV000040491.6
Uncertain significance 1 criteria provided, single submitter Sep 13, 2017 RCV000727837.3
Likely benign 1 criteria provided, single submitter Nov 17, 2020 RCV001084825.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TTN - - GRCh38
GRCh37
7416 17422
TTN-AS1 - - - GRCh38 - 9782

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 17, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000643526.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Oct 02, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000236673.9
Submitted: (Mar 26, 2018)
Evidence details
Comment:
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 … (more)
Uncertain significance
(Sep 13, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000855276.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(May 27, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000064182.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
c.57572-8T>C in intron 260 of TTN: This variant is not expected to have clinical significance because a T>C change at this position does not diverge … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TTN - - - -

Text-mined citations for rs377484398...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 07, 2021