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NM_001458.5(FLNC):c.1032C>T (p.Val344=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Sep 30, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000129078.5
Variation ID:
129078
Description:
single nucleotide variant
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NM_001458.5(FLNC):c.1032C>T (p.Val344=)

Allele ID
134524
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.1
Genomic location
7: 128838049 (GRCh38) GRCh38 UCSC
7: 128478103 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.128478103C>T
NM_001458.4:c.1032C>T NP_001449.3:p.Val344= synonymous
NC_000007.14:g.128838049C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:128838048:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.19649 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.09573
The Genome Aggregation Database (gnomAD) 0.12504
Exome Aggregation Consortium (ExAC) 0.09870
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.11471
Trans-Omics for Precision Medicine (TOPMed) 0.13790
1000 Genomes Project 0.19649
Links
ClinGen: CA152826
dbSNP: rs2291562
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 6 criteria provided, multiple submitters, no conflicts Feb 12, 2016 RCV000117063.7
Benign 1 criteria provided, single submitter Dec 13, 2017 RCV000711674.1
Benign 1 criteria provided, single submitter Dec 3, 2020 RCV001517750.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FLNC Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1517 2369

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Aug 15, 2013)
criteria provided, single submitter
Method: clinical testing
AllHighlyPenetrant
(Autosomal dominant inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000151205.1
Submitted: (Apr 30, 2014)
Evidence details
Benign
(Jan 13, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000269117.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Val344Val in exon 6 of FLNC: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue … (more)
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000307925.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Feb 12, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000519698.4
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)
Benign
(Dec 13, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842061.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Myopathy, distal, 4
Dilated Cardiomyopathy, Dominant
Myofibrillar myopathy, filamin C-related
Cardiomyopathy, familial hypertrophic, 26
Allele origin: germline
Invitae
Accession: SCV001726316.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001923673.1
Submitted: (Sep 23, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001951611.1
Submitted: (Sep 30, 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 rs2291562...

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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 30, 2021