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NM_001458.4(FLNC):c.7281G>A (p.Ala2427=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 25, 2021)
Last evaluated:
Nov 10, 2020
Accession:
VCV000388691.5
Variation ID:
388691
Description:
single nucleotide variant
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NM_001458.4(FLNC):c.7281G>A (p.Ala2427=)

Allele ID
370810
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.1
Genomic location
7: 128496601 (GRCh37) GRCh37 UCSC
7: 128856547 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_870t1:c.7281G>A LRG_870p1:p.Ala2427=
LRG_870:g.31119G>A
NC_000007.13:g.128496601G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:128856546:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00033
The Genome Aggregation Database (gnomAD), exomes 0.00010
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD) 0.00048
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00032
Links
ClinGen: CA4476221
dbSNP: rs186451916
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Nov 10, 2020 RCV000530793.5
Likely benign 1 criteria provided, single submitter Sep 18, 2018 RCV001704479.1
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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
1482 2314
FLNC-AS1 - - - GRCh38 - 817

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Nov 10, 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: SCV000651157.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Sep 18, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000531047.4
Submitted: (Sep 25, 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 rs186451916...

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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 26, 2021