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NM_001458.5(FLNC):c.7280C>T (p.Ala2427Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Oct 22, 2021)
Last evaluated:
Sep 10, 2021
Accession:
VCV000636749.3
Variation ID:
636749
Description:
single nucleotide variant
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NM_001458.5(FLNC):c.7280C>T (p.Ala2427Val)

Allele ID
624346
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.1
Genomic location
7: 128856546 (GRCh38) GRCh38 UCSC
7: 128496600 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_870:g.31118C>T
LRG_870t1:c.7280C>T LRG_870p1:p.Ala2427Val
NM_001458.4:c.7280C>T NP_001449.3:p.Ala2427Val missense
... more HGVS
Protein change
A2427V, A2394V
Other names
-
Canonical SPDI
NC_000007.14:128856545:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Links
dbSNP: rs1343869103
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Sep 10, 2021 RCV000788664.2
Uncertain significance 1 criteria provided, single submitter Sep 28, 2018 RCV000794882.1
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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
1520 2372
FLNC-AS1 - - - GRCh38 - 837

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 14, 2018)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Blueprint Genetics
Accession: SCV000927855.1
Submitted: (May 08, 2019)
Comment:
Patient analyzed with Hypertrophic Cardiomyopathy (HCM) Panel
Evidence details
Uncertain significance
(Sep 28, 2018)
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: SCV000934316.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces alanine with valine at codon 2427 of the FLNC protein (p.Ala2427Val). The alanine residue is highly conserved and there is a … (more)
Uncertain significance
(Sep 10, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001981939.1
Submitted: (Oct 22, 2021)
Evidence details
Comment:
Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); … (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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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 rs1343869103...

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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 Nov 27, 2021