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NM_001458.5(FLNC):c.4302C>T (p.Arg1434=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 23, 2021)
Last evaluated:
Nov 25, 2020
Accession:
VCV000391107.7
Variation ID:
391107
Description:
single nucleotide variant
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NM_001458.5(FLNC):c.4302C>T (p.Arg1434=)

Allele ID
370798
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.1
Genomic location
7: 128847710 (GRCh38) GRCh38 UCSC
7: 128487764 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.128487764C>T
NM_001458.4:c.4302C>T NP_001449.3:p.Arg1434= synonymous
LRG_870:g.22282C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:128847709:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00879 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00257
The Genome Aggregation Database (gnomAD) 0.00911
1000 Genomes Project 0.00879
Trans-Omics for Precision Medicine (TOPMed) 0.00957
The Genome Aggregation Database (gnomAD), exomes 0.00213
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00840
Links
ClinGen: CA4475311
dbSNP: rs114697352
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, single submitter Jan 6, 2017 RCV000422534.3
Benign 1 criteria provided, single submitter Aug 9, 2018 RCV000711686.4
Benign 1 criteria provided, single submitter Nov 25, 2020 RCV001080257.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Jan 06, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000534096.4
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
(Nov 25, 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: SCV000651027.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Aug 09, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842073.1
Submitted: (Aug 31, 2018)
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: SCV001921560.1
Submitted: (Sep 23, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001967983.1
Submitted: (Sep 21, 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 rs114697352...

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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