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NM_001458.4(FLNC):c.5070C>T (p.Leu1690=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 1, 2021)
Last evaluated:
Aug 5, 2021
Accession:
VCV000387408.7
Variation ID:
387408
Description:
single nucleotide variant
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NM_001458.4(FLNC):c.5070C>T (p.Leu1690=)

Allele ID
369476
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.1
Genomic location
7: 128849449 (GRCh38) GRCh38 UCSC
7: 128489503 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_870:g.24021C>T
LRG_870t1:c.5070C>T LRG_870p1:p.Leu1690=
NC_000007.13:g.128489503C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:128849448:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00019
Trans-Omics for Precision Medicine (TOPMed) 0.00025
Exome Aggregation Consortium (ExAC) 0.00026
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD), exomes 0.00024
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00070
Links
ClinGen: CA4475553
dbSNP: rs202027738
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 25, 2020 RCV000555864.4
Likely benign 1 criteria provided, single submitter Aug 5, 2021 RCV001580494.3
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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
1484 2316

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Nov 25, 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: SCV000651050.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Aug 05, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000529443.5
Submitted: (Sep 01, 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 rs202027738...

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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 16, 2021