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NM_001458.4(FLNC):c.7562-5C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 13, 2021)
Last evaluated:
Sep 14, 2020
Accession:
VCV000765411.5
Variation ID:
765411
Description:
single nucleotide variant
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NM_001458.4(FLNC):c.7562-5C>T

Allele ID
775135
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.1
Genomic location
7: 128857113 (GRCh38) GRCh38 UCSC
7: 128497167 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.128497167C>T
NC_000007.14:g.128857113C>T
NG_011807.1:g.31685C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:128857112:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00010
The Genome Aggregation Database (gnomAD), exomes 0.00013
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00012
Links
dbSNP: rs773923745
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 May 28, 2020 RCV000943830.3
Benign 1 criteria provided, single submitter Sep 14, 2020 RCV001644863.2
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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
Benign
(May 28, 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: SCV001089785.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Sep 14, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001860139.1
Submitted: (Sep 13, 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 rs773923745...

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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 Sep 23, 2021