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NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Dec 30, 2020)
Last evaluated:
Sep 26, 2019
Accession:
VCV000179053.3
Variation ID:
179053
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln)

Allele ID
173331
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178684038 (GRCh38) GRCh38 UCSC
2: 179548765 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001256850.1:c.31816A>C NP_001243779.1:p.Lys10606Gln missense
NM_133378.4:c.29035A>C NP_596869.4:p.Lys9679Gln missense
LRG_391:g.151765A>C
... more HGVS
Protein change
K10923Q, K9679Q, K10606Q
Other names
p.K10606Q:AAA>CAA
Canonical SPDI
NC_000002.12:178684037:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (G)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00006
1000 Genomes Project 0.00040
Exome Aggregation Consortium (ExAC) 0.00007
Trans-Omics for Precision Medicine (TOPMed) 0.00021
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00009
The Genome Aggregation Database (gnomAD) 0.00013
Links
ClinGen: CA183628
dbSNP: rs367720439
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, single submitter Sep 26, 2019 RCV000184455.2
Uncertain significance 1 criteria provided, single submitter Jan 14, 2015 RCV000155837.2
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000765582.1
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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
7416 17422

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 14, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000205548.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Lys9679Gln variant in TTN has been identified by our laboratory in 1 adole scent with DCM, but has also been identified in 7/9768 African … (more)
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Myopathy, early-onset, with fatal cardiomyopathy
Familial hypertrophic cardiomyopathy 9
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000896897.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Likely benign
(Sep 26, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001477124.1
Submitted: (Dec 30, 2020)
Evidence details
not provided
(Jul 08, 2014)
no assertion provided
Method: clinical testing
not provided
Allele origin: germline
GeneDx
Accession: SCV000237089.2
Submitted: (Jun 04, 2015)
Evidence details
Comment:
Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in … (more)

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

Text-mined citations for rs367720439...

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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 06, 2021