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NM_001458.5(FLNC):c.1216G>A (p.Gly406Ser) AND Hypertrophic cardiomyopathy 26

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002223135.1

Allele description [Variation Report for NM_001458.5(FLNC):c.1216G>A (p.Gly406Ser)]

NM_001458.5(FLNC):c.1216G>A (p.Gly406Ser)

Gene:
FLNC:filamin C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q32.1
Genomic location:
Preferred name:
NM_001458.5(FLNC):c.1216G>A (p.Gly406Ser)
HGVS:
  • NC_000007.14:g.128838608G>A
  • NG_011807.1:g.13180G>A
  • NM_001127487.2:c.1216G>A
  • NM_001458.5:c.1216G>AMANE SELECT
  • NP_001120959.1:p.Gly406Ser
  • NP_001449.3:p.Gly406Ser
  • NP_001449.3:p.Gly406Ser
  • LRG_870t1:c.1216G>A
  • LRG_870:g.13180G>A
  • LRG_870p1:p.Gly406Ser
  • NC_000007.13:g.128478662G>A
  • NM_001458.4:c.1216G>A
Protein change:
G406S
Links:
dbSNP: rs1343684536
NCBI 1000 Genomes Browser:
rs1343684536
Molecular consequence:
  • NM_001127487.2:c.1216G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.5:c.1216G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertrophic cardiomyopathy 26
Synonyms:
Cardiomyopathy, familial hypertrophic, 26
Identifiers:
MONDO: MONDO:0014883; MedGen: C4310749; Orphanet: 75249; OMIM: 617047

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002499635Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences
no assertion criteria provided
Likely pathogenicsomaticresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Iraniansomaticyes1not providednot providednot providednot providedresearch

Details of each submission

From Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences, SCV002499635.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Iranian1not providednot providedresearchnot provided

Description

The FLNC gene encodes Filamin C protein in cardiac and skeletal muscle. Due to study of Rene L Begay et al., 2018 (PMID: 30067491), FLNC variants present in 2.2% of Dilated Cardiomyopathy (DCM) families characterized by a high risk of life-threatening ventricular arrhythmias and a pathological cellular phenotype partially overlapping with arrhythmogenic right ventricular cardiomyopathy.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 16, 2024