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NM_001267550.2(TTN):c.11311+1780T>C

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Sep 27, 2017)
Last evaluated:
Aug 1, 2017
Accession:
VCV000488178.1
Variation ID:
488178
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.11311+1780T>C

Allele ID
481121
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178751344 (GRCh38) GRCh38 UCSC
2: 179616071 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.84459T>C
NC_000002.11:g.179616071A>G
NC_000002.12:g.178751344A>G
... more HGVS
Protein change
W3686R
Other names
-
Canonical SPDI
NC_000002.12:178751343:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
1000 Genomes Project 0.00020
Links
ClinGen: CA60991049
dbSNP: rs184027783
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 1, 2017 RCV000577987.1
Uncertain significance 1 criteria provided, single submitter Aug 1, 2017 RCV000578068.1
Uncertain significance 1 criteria provided, single submitter Aug 1, 2017 RCV000578100.1
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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 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
7533 17646

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 01, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Allele origin: germline
Phosphorus, Inc.
Accession: SCV000679941.1
Submitted: (Sep 27, 2017)
Evidence details
Uncertain significance
(Aug 01, 2017)
criteria provided, single submitter
Method: clinical testing
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Phosphorus, Inc.
Accession: SCV000679942.1
Submitted: (Sep 27, 2017)
Evidence details
Uncertain significance
(Aug 01, 2017)
criteria provided, single submitter
Method: clinical testing
Tibial muscular dystrophy
Allele origin: germline
Phosphorus, Inc.
Accession: SCV000679943.1
Submitted: (Sep 27, 2017)
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 rs184027783...

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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 Oct 08, 2021