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NM_001458.5(FLNC):c.3695_3698del (p.Gly1232fs) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 24, 2023
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:
RCV003289306.2

Allele description [Variation Report for NM_001458.5(FLNC):c.3695_3698del (p.Gly1232fs)]

NM_001458.5(FLNC):c.3695_3698del (p.Gly1232fs)

Gene:
FLNC:filamin C [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q32.1
Genomic location:
Preferred name:
NM_001458.5(FLNC):c.3695_3698del (p.Gly1232fs)
HGVS:
  • NC_000007.14:g.128845160_128845163del
  • NG_011807.1:g.19732_19735del
  • NM_001127487.2:c.3695_3698del
  • NM_001458.4:c.3695_3698delGGCA
  • NM_001458.5:c.3695_3698delMANE SELECT
  • NP_001120959.1:p.Gly1232fs
  • NP_001449.3:p.Gly1232fs
  • LRG_870t1:c.3695_3698del
  • LRG_870:g.19732_19735del
  • NC_000007.13:g.128485214_128485217del
Protein change:
G1232fs
Links:
dbSNP: rs2128936511
NCBI 1000 Genomes Browser:
rs2128936511
Molecular consequence:
  • NM_001127487.2:c.3695_3698del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001458.5:c.3695_3698del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004004607Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Apr 24, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Yang Q, Berkman AM, Ezekian JE, Rosamilia M, Rosenfeld JA, Liu P, Landstrom AP.

J Am Heart Assoc. 2022 Oct 4;11(19):e025257. doi: 10.1161/JAHA.122.025257. Epub 2022 Sep 21.

PubMed [citation]
PMID:
36129056
PMCID:
PMC9673717

Details of each submission

From Ambry Genetics, SCV004004607.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.3695_3698delGGCA pathogenic mutation, located in coding exon 21 of the FLNC gene, results from a deletion of 4 nucleotides at nucleotide positions 3695 to 3698, causing a translational frameshift with a predicted alternate stop codon (p.G1232Vfs*37). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the supporting evidence, this variant is expected to be causative of FLNC-related dilated cardiomyopathy; however, its clinical significance for FLNC-related hypertrophy/restrictive cardiomyopathy and/or skeletal myopathy is unclear.

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

Last Updated: Sep 29, 2024