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NM_001267550.2(TTN):c.70305G>A (p.Thr23435=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 5, 2020
Accession:
VCV000047284.3
Variation ID:
47284
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.70305G>A (p.Thr23435=)

Allele ID
56449
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178575827 (GRCh38) GRCh38 UCSC
2: 179440554 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.12:g.178575827C>T
NC_000002.11:g.179440554C>T
NM_001267550.2:c.70305G>A MANE Select NP_001254479.2:p.Thr23435= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:178575826:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00006
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA140570
dbSNP: rs397517684
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Sep 2, 2016 RCV000040554.4
Benign 1 criteria provided, single submitter Jun 11, 2018 RCV000714085.1
Likely benign 1 criteria provided, single submitter Feb 5, 2020 RCV001471434.1
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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
7377 17355
TTN-AS1 - - - GRCh38 - 9755

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 11, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000844752.1
Submitted: (Aug 31, 2018)
Evidence details
Likely benign
(May 18, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000064245.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Thr20867Thr in exon 275 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue. It … (more)
Likely benign
(Sep 02, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000531489.4
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)
Likely benign
(Feb 05, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV001675538.1
Submitted: (Jan 07, 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs397517684...

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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