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NM_001458.5(FLNC):c.6665T>C (p.Phe2222Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 5, 2017)
Last evaluated:
Jan 31, 2017
Accession:
VCV000472140.1
Variation ID:
472140
Description:
single nucleotide variant
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NM_001458.5(FLNC):c.6665T>C (p.Phe2222Ser)

Allele ID
456911
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.1
Genomic location
7: 128494208 (GRCh37) GRCh37 UCSC
7: 128854154 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.128494208T>C
NC_000007.14:g.128854154T>C
NG_011807.1:g.28726T>C
... more HGVS
Protein change
F2222S, F2189S
Other names
-
Canonical SPDI
NC_000007.14:128854153:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00000
Links
ClinGen: CA369213058
dbSNP: rs1554401281
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 31, 2017 RCV000525262.1
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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
1520 2373
FLNC-AS1 - - - GRCh38 - 838

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 31, 2017)
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: SCV000651128.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces phenylalanine with serine at codon 2222 of the FLNC protein (p.Phe2222Ser). The phenylalanine residue is moderately conserved and there is a … (more)

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 rs1554401281...

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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 Dec 04, 2021