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NM_001267550.2(TTN):c.11311+2465C>G

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 2, 2021)
Last evaluated:
Mar 1, 2020
Accession:
VCV000047738.10
Variation ID:
47738
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.11311+2465C>G

Allele ID
56902
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178750659 (GRCh38) GRCh38 UCSC
2: 179615386 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.85144C>G
NC_000002.11:g.179615386G>C
NM_133378.4:c.10360+2465C>G
... more HGVS
Protein change
T3914R
Other names
p.T3914R:ACA>AGA
Canonical SPDI
NC_000002.12:178750658:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00339 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00133
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00331
1000 Genomes Project 0.00339
Trans-Omics for Precision Medicine (TOPMed) 0.00353
The Genome Aggregation Database (gnomAD), exomes 0.00127
The Genome Aggregation Database (gnomAD) 0.00239
Links
ClinGen: CA284440
dbSNP: rs116593093
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Mar 20, 2015 RCV000041007.7
Likely benign 2 criteria provided, single submitter Mar 1, 2020 RCV001171817.2
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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
7296 17194

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 24, 2013)
criteria provided, single submitter
Method: research
not specified
Allele origin: unknown
Biesecker Lab/Clinical Genomics Section,National Institutes of Health
Study: ClinSeq
Accession: SCV000051496.1
Submitted: (Mar 10, 2015)
Comments (2):
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for … (more)
Medical sequencing
Evidence details
Benign
(May 12, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000169551.11
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)
Likely benign
(Mar 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001334683.4
Submitted: (Jul 04, 2021)
Evidence details
Benign
(Mar 20, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000064698.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Thr3914Arg in exon 45A of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 1.1% (106/10028) of … (more)
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001800033.1
Submitted: (Aug 19, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001739935.3
Submitted: (Sep 02, 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 rs116593093...

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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 Sep 07, 2021