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NM_001458.5(FLNC):c.7614G>T (p.Leu2538Phe)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 30, 2021)
Last evaluated:
Dec 6, 2020
Accession:
VCV000445970.6
Variation ID:
445970
Description:
single nucleotide variant
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NM_001458.5(FLNC):c.7614G>T (p.Leu2538Phe)

Allele ID
439242
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.1
Genomic location
7: 128857170 (GRCh38) GRCh38 UCSC
7: 128497224 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001458.4:c.7614G>T NP_001449.3:p.Leu2538Phe missense
LRG_870:g.31742G>T
LRG_870t1:c.7614G>T LRG_870p1:p.Leu2538Phe
... more HGVS
Protein change
L2538F, L2505F
Other names
-
Canonical SPDI
NC_000007.14:128857169:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00200 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00124
Trans-Omics for Precision Medicine (TOPMed) 0.00152
Exome Aggregation Consortium (ExAC) 0.00142
The Genome Aggregation Database (gnomAD), exomes 0.00160
1000 Genomes Project 0.00200
Links
ClinGen: CA4476327
dbSNP: rs180834558
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Oct 9, 2019 RCV000514907.5
Benign 1 criteria provided, single submitter Dec 6, 2020 RCV001082529.2
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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
1484 2316
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
(Mar 08, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000610859.1
Submitted: (Oct 05, 2017)
Evidence details
Benign
(Dec 06, 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: SCV000651172.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Oct 09, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000725715.2
Submitted: (Sep 30, 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 rs180834558...

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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