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NM_001267550.2(TTN):c.15561G>T (p.Leu5187=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 27, 2017)
Last evaluated:
Aug 1, 2017
Accession:
VCV000262320.1
Variation ID:
262320
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.15561G>T (p.Leu5187=)

Allele ID
250429
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178733828 (GRCh38) GRCh38 UCSC
2: 179598555 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.101975G>T
NC_000002.11:g.179598555C>A
NC_000002.12:g.178733828C>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:178733827:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs779159076
ClinGen: CA10586804
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter - RCV000252153.1
Benign 1 criteria provided, single submitter Aug 1, 2017 RCV000578017.1
Benign 1 criteria provided, single submitter Aug 1, 2017 RCV000577965.1
Benign 1 criteria provided, single submitter Aug 1, 2017 RCV000578080.1
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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
7529 17630

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000315404.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Aug 01, 2017)
criteria provided, single submitter
Method: clinical testing
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Phosphorus, Inc.
Accession: SCV000679952.1
Submitted: (Sep 27, 2017)
Evidence details
Publications
PubMed (2)
Benign
(Aug 01, 2017)
criteria provided, single submitter
Method: clinical testing
Tibial muscular dystrophy
Allele origin: germline
Phosphorus, Inc.
Accession: SCV000679953.1
Submitted: (Sep 27, 2017)
Evidence details
Publications
PubMed (2)
Benign
(Aug 01, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Allele origin: germline
Phosphorus, Inc.
Accession: SCV000679951.1
Submitted: (Sep 27, 2017)
Evidence details
Publications
PubMed (2)

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
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
A systematic approach to assessing the clinical significance of genetic variants. Duzkale H Clinical genetics 2013 PMID: 24033266

Text-mined citations for rs779159076...

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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