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NM_001458.4(FLNC):c.6991G>A (p.Val2331Met)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 3, 2021)
Last evaluated:
Apr 16, 2021
Accession:
VCV000539520.7
Variation ID:
539520
Description:
single nucleotide variant
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NM_001458.4(FLNC):c.6991G>A (p.Val2331Met)

Allele ID
523014
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.1
Genomic location
7: 128854676 (GRCh38) GRCh38 UCSC
7: 128494730 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_870t1:c.6991G>A LRG_870p1:p.Val2331Met
NC_000007.13:g.128494730G>A
NC_000007.14:g.128854676G>A
... more HGVS
Protein change
V2331M, V2298M
Other names
-
Canonical SPDI
NC_000007.14:128854675:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00156
Trans-Omics for Precision Medicine (TOPMed) 0.00140
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00148
1000 Genomes Project 0.00180
Links
ClinGen: CA4476127
dbSNP: rs191288058
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 Dec 3, 2020 RCV000649269.4
Likely benign 1 criteria provided, single submitter Oct 30, 2017 RCV000729933.1
Benign 1 criteria provided, single submitter Apr 16, 2021 RCV001595030.3
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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
Likely benign
(Oct 30, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000857635.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
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: SCV000771094.4
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Apr 16, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001829442.1
Submitted: (Sep 03, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=FLNC - - - -

Text-mined citations for rs191288058...

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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 29, 2021