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NM_001458.5(FLNC):c.490C>T (p.Arg164Trp) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 11, 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:
RCV002334359.2

Allele description [Variation Report for NM_001458.5(FLNC):c.490C>T (p.Arg164Trp)]

NM_001458.5(FLNC):c.490C>T (p.Arg164Trp)

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.490C>T (p.Arg164Trp)
HGVS:
  • NC_000007.14:g.128835463C>T
  • NG_011807.1:g.10035C>T
  • NM_001127487.2:c.490C>T
  • NM_001458.5:c.490C>TMANE SELECT
  • NP_001120959.1:p.Arg164Trp
  • NP_001449.3:p.Arg164Trp
  • NP_001449.3:p.Arg164Trp
  • LRG_870t1:c.490C>T
  • LRG_870:g.10035C>T
  • LRG_870p1:p.Arg164Trp
  • NC_000007.13:g.128475517C>T
  • NM_001458.4:c.490C>T
Protein change:
R164W
Links:
dbSNP: rs1460797312
NCBI 1000 Genomes Browser:
rs1460797312
Molecular consequence:
  • NM_001127487.2:c.490C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.5:c.490C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002644455Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 11, 2022) 		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

Multiple genetic variants in adolescent patients with left ventricular noncompaction cardiomyopathy.

Liu S, Xie Y, Zhang H, Feng Z, Huang J, Huang J, Hu S, Wei Y.

Int J Cardiol. 2020 Mar 1;302:117-123. doi: 10.1016/j.ijcard.2019.12.001. Epub 2019 Dec 26.

PubMed [citation]
PMID:
31918855

Details of each submission

From Ambry Genetics, SCV002644455.2

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

Description

The p.R164W variant (also known as c.490C>T), located in coding exon 2 of the FLNC gene, results from a C to T substitution at nucleotide position 490. The arginine at codon 164 is replaced by tryptophan, an amino acid with dissimilar properties. This variant was reported in one individual with left ventricular non-compaction (LVNC), who also had additional co-occurring cardiac variants detected (Liu S et al. Int J Cardiol, 2020 03;302:117-123). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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