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NM_001458.5(FLNC):c.5996G>A (p.Arg1999Gln) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 25, 2024
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:
RCV004024196.1

Allele description [Variation Report for NM_001458.5(FLNC):c.5996G>A (p.Arg1999Gln)]

NM_001458.5(FLNC):c.5996G>A (p.Arg1999Gln)

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.5996G>A (p.Arg1999Gln)
HGVS:
  • NC_000007.14:g.128852744G>A
  • NG_011807.1:g.27316G>A
  • NM_001127487.2:c.5897G>A
  • NM_001458.5:c.5996G>AMANE SELECT
  • NP_001120959.1:p.Arg1966Gln
  • NP_001449.3:p.Arg1999Gln
  • NP_001449.3:p.Arg1999Gln
  • LRG_870t1:c.5996G>A
  • LRG_870:g.27316G>A
  • LRG_870p1:p.Arg1999Gln
  • NC_000007.13:g.128492798G>A
  • NM_001458.4:c.5996G>A
Protein change:
R1966Q
Links:
dbSNP: rs1346364708
NCBI 1000 Genomes Browser:
rs1346364708
Molecular consequence:
  • NM_001127487.2:c.5897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.5:c.5996G>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
SCV004871161Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 25, 2024) 		germlineclinical testing

PubMed (2)
[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

Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients.

Jaafar N, Gómez J, Kammoun I, Zairi I, Amara WB, Kachboura S, Kraiem S, Hammami M, Iglesias S, Alonso B, Coto E.

Genet Test Mol Biomarkers. 2016 Nov;20(11):674-679. Epub 2016 Aug 30.

PubMed [citation]
PMID:
27574918

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium., Straub V.

Genet Med. 2020 Sep;22(9):1478-1488. doi: 10.1038/s41436-020-0840-3. Epub 2020 Jun 11.

PubMed [citation]
PMID:
32528171
PMCID:
PMC7462745

Details of each submission

From Ambry Genetics, SCV004871161.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The c.5996G>A (p.R1999Q) alteration is located in exon 36 (coding exon 36) of the FLNC gene. This alteration results from a G to A substitution at nucleotide position 5996, causing the arginine (R) at amino acid position 1999 to be replaced by a glutamine (Q). Based on data from gnomAD, the A allele has an overall frequency of 0.002% (4/248984) total alleles studied. The highest observed frequency was 0.004% (4/112904) of European (non-Finnish) alleles. This alteration has been reported in an individual from a cohort of patients with hypertrophic cardiomyopathy (Jaafar, 2016). This alteration has also been reported in a cohort of patients with unexplained limb girdle weakness and/or elevated creatine kinase (Töpf, 2020). This amino acid position is well conserved in available vertebrate species. This alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, 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