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NM_001458.5(FLNC):c.6120C>T (p.Asp2040=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Oct 15, 2021)
Last evaluated:
Dec 1, 2020
Accession:
VCV000383328.6
Variation ID:
383328
Description:
single nucleotide variant
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NM_001458.5(FLNC):c.6120C>T (p.Asp2040=)

Allele ID
368920
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.1
Genomic location
7: 128852943 (GRCh38) GRCh38 UCSC
7: 128492997 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_870:g.27515C>T
LRG_870t1:c.6120C>T LRG_870p1:p.Asp2040=
NC_000007.13:g.128492997C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:128852942:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00339 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00099
The Genome Aggregation Database (gnomAD), exomes 0.00132
1000 Genomes Project 0.00339
Exome Aggregation Consortium (ExAC) 0.00127
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00164
Links
ClinGen: CA4475891
dbSNP: rs116974302
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, single submitter May 20, 2016 RCV000434684.2
Benign 2 criteria provided, single submitter Apr 9, 2018 RCV000711692.5
Benign 1 criteria provided, single submitter Dec 1, 2020 RCV001082058.2
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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
FLNC-AS1 - - - GRCh38 - 837

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 20, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000523692.4
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
(Dec 01, 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: SCV000651107.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Apr 09, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842079.1
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: SCV001979100.1
Submitted: (Oct 15, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001979413.1
Submitted: (Oct 15, 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 rs116974302...

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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