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NM_001458.5(FLNC):c.3506A>G (p.Lys1169Arg)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 22, 2020
Accession:
VCV000290008.4
Variation ID:
290008
Description:
single nucleotide variant
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NM_001458.5(FLNC):c.3506A>G (p.Lys1169Arg)

Allele ID
274245
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.1
Genomic location
7: 128844971 (GRCh38) GRCh38 UCSC
7: 128485025 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.128485025A>G
NM_001458.4:c.3506A>G NP_001449.3:p.Lys1169Arg missense
NC_000007.13:g.128485025A>G
... more HGVS
Protein change
K1169R
Other names
-
Canonical SPDI
NC_000007.14:128844970:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00260 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
1000 Genomes Project 0.00260
Links
ClinGen: CA4475060
dbSNP: rs530742766
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, multiple submitters, no conflicts Aug 8, 2016 RCV000289546.2
Benign 1 criteria provided, single submitter Nov 22, 2020 RCV000649192.4
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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
1484 2316

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Aug 08, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000524862.4
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
(Aug 05, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000344484.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Nov 22, 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: SCV000771017.4
Submitted: (Jan 07, 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 rs530742766...

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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