NM_001458.5(FLNC):c.3133C>A (p.His1045Asn) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 19, 2022
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:: RCV002323864.3

Allele description [Variation Report for NM_001458.5(FLNC):c.3133C>A (p.His1045Asn)]

NM_001458.5(FLNC):c.3133C>A (p.His1045Asn)

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.3133C>A (p.His1045Asn)

HGVS:

NC_000007.14:g.128844207C>A
NG_011807.1:g.18779C>A
NM_001127487.2:c.3133C>A
NM_001458.5:c.3133C>AMANE SELECT
NP_001120959.1:p.His1045Asn
NP_001449.3:p.His1045Asn
NP_001449.3:p.His1045Asn
LRG_870t1:c.3133C>A
LRG_870:g.18779C>A
LRG_870p1:p.His1045Asn
NC_000007.13:g.128484261C>A
NM_001458.4:c.3133C>A

Protein change:

H1045N

Links:

dbSNP: rs201863231

NCBI 1000 Genomes Browser:

rs201863231

Molecular consequence:

NM_001127487.2:c.3133C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001458.5:c.3133C>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002607457	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 19, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002607457

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 19, 2022)

germline

clinical testing

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

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

Citations

PubMed

Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients' Outcome.

Smith E, Thompson PD, Burke-Martindale C, Weissler-Snir A.

J Am Heart Assoc. 2022 May 3;11(9):e024501. doi: 10.1161/JAHA.121.024501. Epub 2022 Apr 26.

PubMed [citation]

PMID:: 35470680
PMCID:: PMC9238612

Details of each submission

From Ambry Genetics, SCV002607457.3

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

Description

The p.H1045N variant (also known as c.3133C>A), located in coding exon 20 of the FLNC gene, results from a C to A substitution at nucleotide position 3133. The histidine at codon 1045 is replaced by asparagine, an amino acid with similar properties. This variant has been detected in a cohort in association with personal or family history of dilated cardiomyopathy (DCM) or suspicion of DCM; however, additional detail was limited (Smith E et al. J Am Heart Assoc, 2022 May;11:e024501). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains 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 8, 2024

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