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NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter) AND Primary familial dilated cardiomyopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 7, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004689875.1

Allele description [Variation Report for NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter)]

NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter)

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.4969C>T (p.Arg1657Ter)
HGVS:
  • NC_000007.14:g.128849348C>T
  • NG_011807.1:g.23920C>T
  • NM_001127487.2:c.4969C>T
  • NM_001458.5:c.4969C>TMANE SELECT
  • NP_001120959.1:p.Arg1657Ter
  • NP_001449.3:p.Arg1657Ter
  • NP_001449.3:p.Arg1657Ter
  • LRG_870t1:c.4969C>T
  • LRG_870:g.23920C>T
  • LRG_870p1:p.Arg1657Ter
  • NC_000007.13:g.128489402C>T
  • NM_001458.4:c.4969C>T
Protein change:
R1657*
Links:
dbSNP: rs1563000044
NCBI 1000 Genomes Browser:
rs1563000044
Molecular consequence:
  • NM_001127487.2:c.4969C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001458.5:c.4969C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Primary familial dilated cardiomyopathy (FDC)
Synonyms:
Familial dilated cardiomyopathy; Hypokinetic dilated cardiomyopathy, familial
Identifiers:
MONDO: MONDO:0016333; MedGen: C0340427; Orphanet: 217607; OMIM: PS115200

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005185407Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(May 7, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005185407.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: FLNC c.4969C>T (p.Arg1657X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 249230 control chromosomes. To our knowledge, no occurrence of c.4969C>T in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 620418). Based on the evidence outlined above, the variant was classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024