U.S. flag

An official website of the United States government

NM_001458.5(FLNC):c.6539G>A (p.Arg2180His) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 27, 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:
RCV002365778.2

Allele description [Variation Report for NM_001458.5(FLNC):c.6539G>A (p.Arg2180His)]

NM_001458.5(FLNC):c.6539G>A (p.Arg2180His)

Genes:
FLNC-AS1:FLNC antisense RNA 1 [Gene - HGNC]
FLNC:filamin C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q32.1
Genomic location:
Preferred name:
NM_001458.5(FLNC):c.6539G>A (p.Arg2180His)
HGVS:
  • NC_000007.14:g.128854028G>A
  • NG_011807.1:g.28600G>A
  • NM_001127487.2:c.6440G>A
  • NM_001458.5:c.6539G>AMANE SELECT
  • NP_001120959.1:p.Arg2147His
  • NP_001449.3:p.Arg2180His
  • NP_001449.3:p.Arg2180His
  • LRG_870t1:c.6539G>A
  • LRG_870:g.28600G>A
  • LRG_870p1:p.Arg2180His
  • NC_000007.13:g.128494082G>A
  • NM_001458.4:c.6539G>A
Protein change:
R2147H
Links:
dbSNP: rs1554401209
NCBI 1000 Genomes Browser:
rs1554401209
Molecular consequence:
  • NM_001127487.2:c.6440G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.5:c.6539G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002661241Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 27, 2022) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.

Khan RS, Pahl E, Dellefave-Castillo L, Rychlik K, Ing A, Yap KL, Brew C, Johnston JR, McNally EM, Webster G.

J Am Heart Assoc. 2022 Jan 4;11(1):e022854. doi: 10.1161/JAHA.121.022854. Epub 2021 Dec 22.

PubMed [citation]
PMID:
34935411
PMCID:
PMC9075202

Details of each submission

From Ambry Genetics, SCV002661241.2

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

Description

The p.R2180H variant (also known as c.6539G>A), located in coding exon 40 of the FLNC gene, results from a G to A substitution at nucleotide position 6539. The arginine at codon 2180 is replaced by histidine, an amino acid with highly similar properties. This alteration has been reported in a pediatric dilated cardiomyopathy cohort (Khan RS et al. J Am Heart Assoc, 2022 01;11:e022854). This amino acid position is highly 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.

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

Last Updated: Sep 29, 2024