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NM_001458.4(FLNC):c.5262C>T (p.Tyr1754=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 23, 2021)
Last evaluated:
Dec 24, 2020
Accession:
VCV000472092.5
Variation ID:
472092
Description:
single nucleotide variant
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NM_001458.4(FLNC):c.5262C>T (p.Tyr1754=)

Allele ID
456321
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.1
Genomic location
7: 128850038 (GRCh38) GRCh38 UCSC
7: 128490092 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_870:g.24610C>T
LRG_870t1:c.5262C>T LRG_870p1:p.Tyr1754=
NC_000007.13:g.128490092C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:128850037:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00105
The Genome Aggregation Database (gnomAD), exomes 0.00037
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00096
Exome Aggregation Consortium (ExAC) 0.00073
Trans-Omics for Precision Medicine (TOPMed) 0.00158
Links
ClinGen: CA4475618
dbSNP: rs369165766
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 4, 2020 RCV000560150.5
Benign 1 criteria provided, single submitter Dec 24, 2020 RCV001697313.1
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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
1482 2314

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Nov 04, 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: SCV000651062.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Dec 24, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000717368.2
Submitted: (Sep 23, 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 rs369165766...

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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