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NM_001267550.2(TTN):c.26019C>T (p.His8673=)

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Interpretation:
Conflicting interpretations of pathogenicity​

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

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Sep 13, 2021)
Last evaluated:
Apr 27, 2021
Accession:
VCV000137846.7
Variation ID:
137846
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.26019C>T (p.His8673=)

Allele ID
141549
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178715167 (GRCh38) GRCh38 UCSC
2: 179579894 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.120636C>T
NM_001267550.1:c.26019C>T
NM_001267550.2:c.26019C>T MANE Select NP_001254479.2:p.His8673= synonymous
... more HGVS
Protein change
-
Other names
p.H8356H:CAC>CAT
Canonical SPDI
NC_000002.12:178715166:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00031
Exome Aggregation Consortium (ExAC) 0.00007
1000 Genomes Project 0.00080
Trans-Omics for Precision Medicine (TOPMed) 0.00027
The Genome Aggregation Database (gnomAD) 0.00061
Trans-Omics for Precision Medicine (TOPMed) 0.00024
Links
ClinGen: CA291535
dbSNP: rs370266918
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Apr 27, 2021 RCV000126158.4
Likely benign 1 criteria provided, single submitter Mar 5, 2013 RCV000254515.1
Uncertain significance 1 criteria provided, single submitter May 4, 2017 RCV000727398.3
Likely benign 1 criteria provided, single submitter Nov 12, 2020 RCV001084296.2
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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 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
7705 17950

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 16, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000169651.11
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
(May 04, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000708220.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Mar 05, 2013)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000318502.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, … (more)
Likely benign
(Nov 12, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000642882.4
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Apr 27, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001880235.1
Submitted: (Sep 13, 2021)
Evidence details

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 rs370266918...

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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 Dec 04, 2021