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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 28, 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:: RCV003362932.2

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:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004054505	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jul 28, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004054505

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jul 28, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004054505.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.R1657* pathogenic mutation (also known as c.4969C>T), located in coding exon 30 of the FLNC gene, results from a C to T substitution at nucleotide position 4969. This changes the amino acid from an arginine to a stop codon within coding exon 30. 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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