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NM_001458.5(FLNC):c.5071G>A (p.Asp1691Asn) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 17, 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:
RCV002334294.10

Allele description [Variation Report for NM_001458.5(FLNC):c.5071G>A (p.Asp1691Asn)]

NM_001458.5(FLNC):c.5071G>A (p.Asp1691Asn)

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.5071G>A (p.Asp1691Asn)
HGVS:
  • NC_000007.14:g.128849450G>A
  • NG_011807.1:g.24022G>A
  • NM_001127487.2:c.5071G>A
  • NM_001458.5:c.5071G>AMANE SELECT
  • NP_001120959.1:p.Asp1691Asn
  • NP_001449.3:p.Asp1691Asn
  • NP_001449.3:p.Asp1691Asn
  • LRG_870t1:c.5071G>A
  • LRG_870:g.24022G>A
  • LRG_870p1:p.Asp1691Asn
  • NC_000007.13:g.128489504G>A
  • NM_001458.4:c.5071G>A
Protein change:
D1691N
Links:
dbSNP: rs777061037
NCBI 1000 Genomes Browser:
rs777061037
Molecular consequence:
  • NM_001127487.2:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.5:c.5071G>A - 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
SCV002643614Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 17, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Clinical, Pathological, and Genetic Features of Two Chinese Cases with Filamin C Myopathy.

Zhang YT, Pu CQ, Ban R, Liu HX, Shi Q, Lu XH.

Chin Med J (Engl). 2018 Dec 20;131(24):2986-2988. doi: 10.4103/0366-6999.247208. No abstract available.

PubMed [citation]
PMID:
30539912
PMCID:
PMC6302653

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM, Mook ORF, Alders M, Bikker H, Lekanne Dit Deprez RH, Christiaans I.

Neth Heart J. 2019 Jun;27(6):304-309. doi: 10.1007/s12471-019-1250-5.

PubMed [citation]
PMID:
30847666
PMCID:
PMC6533346
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV002643614.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The p.D1691N variant (also known as c.5071G>A), located in coding exon 30 of the FLNC gene, results from a G to A substitution at nucleotide position 5071. The aspartic acid at codon 1691 is replaced by asparagine, an amino acid with highly similar properties. This alteration has been reported as de novo in a subject with skeletal myopathy (Zhang YT et al. Chin. Med. J., 2018 Dec;131:2986-2988). This variant has also been detected in a hypertrophic cardiomyopathy genetic testing case, and cases with noncompaction and/or dilated cardiomyopathy (van Lint FHM et al. Neth Heart J. 2019 Jun;27(6):304-309; Shumkova M. Kardiol Pol. 2021 May;79(6):716-717; Ware SM. Am J Hum Genet. 2022 Feb;109(2):282-298). 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: Nov 24, 2024