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NM_001458.5(FLNC):c.3838C>T (p.Leu1280=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Sep 30, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000129087.7
Variation ID:
129087
Description:
single nucleotide variant
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NM_001458.5(FLNC):c.3838C>T (p.Leu1280=)

Allele ID
134533
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.1
Genomic location
7: 128846037 (GRCh38) GRCh38 UCSC
7: 128486091 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_870:g.20609C>T
LRG_870t1:c.3838C>T LRG_870p1:p.Leu1280=
NC_000007.13:g.128486091C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:128846036:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.01977 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.02753
Exome Aggregation Consortium (ExAC) 0.03326
1000 Genomes Project 0.01977
The Genome Aggregation Database (gnomAD) 0.03419
The Genome Aggregation Database (gnomAD) 0.03923
The Genome Aggregation Database (gnomAD), exomes 0.03254
Trans-Omics for Precision Medicine (TOPMed) 0.02833
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.03066
Links
ClinGen: CA152853
dbSNP: rs34180031
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 Jan 13, 2016 RCV000117072.9
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV000535374.3
Benign 1 criteria provided, single submitter Nov 30, 2017 RCV000711682.2
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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
1520 2372

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: SCV000307950.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 13, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000522871.4
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 30, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842069.1
Submitted: (Aug 31, 2018)
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: SCV000711695.1
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Leu1280Leu in exon 22 of FLNC: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue … (more)
Benign
(Dec 04, 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: SCV000651003.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal dominant inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000151214.2
Submitted: (Jun 27, 2014)
Evidence details
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (more)
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: SCV001920905.1
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: SCV001951295.1
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 rs34180031...

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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 Dec 04, 2021