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NM_001458.5(FLNC):c.3553G>A (p.Glu1185Lys)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Aug 29, 2018)
Last evaluated:
Mar 2, 2018
Accession:
VCV000382671.1
Variation ID:
382671
Description:
single nucleotide variant
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NM_001458.5(FLNC):c.3553G>A (p.Glu1185Lys)

Allele ID
370776
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.1
Genomic location
7: 128845018 (GRCh38) GRCh38 UCSC
7: 128485072 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_870:g.19590G>A
LRG_870t1:c.3553G>A LRG_870p1:p.Glu1185Lys
NM_001458.4:c.3553G>A NP_001449.3:p.Glu1185Lys missense
... more HGVS
Protein change
E1185K
Other names
-
Canonical SPDI
NC_000007.14:128845017:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA16605647
dbSNP: rs912926530
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Feb 10, 2016 RCV000445151.1
Uncertain significance 1 criteria provided, single submitter Mar 2, 2018 RCV000702103.1
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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
1517 2369

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Feb 10, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000522680.4
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)
Uncertain significance
(Mar 02, 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: SCV000830938.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces glutamic acid with lysine at codon 1185 of the FLNC protein (p.Glu1185Lys). The glutamic acid residue is moderately conserved and there … (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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs912926530...

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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 24, 2021