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NM_001458.5(FLNC):c.1840G>A (p.Ala614Thr) AND Myofibrillar myopathy 5

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 22, 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:
RCV002286577.1

Allele description [Variation Report for NM_001458.5(FLNC):c.1840G>A (p.Ala614Thr)]

NM_001458.5(FLNC):c.1840G>A (p.Ala614Thr)

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.1840G>A (p.Ala614Thr)
HGVS:
  • NC_000007.14:g.128841196G>A
  • NG_011807.1:g.15768G>A
  • NM_001127487.2:c.1840G>A
  • NM_001458.5:c.1840G>AMANE SELECT
  • NP_001120959.1:p.Ala614Thr
  • NP_001449.3:p.Ala614Thr
  • LRG_870:g.15768G>A
  • NC_000007.13:g.128481250G>A
  • NM_001458.4:c.1840G>A
Protein change:
A614T
Links:
dbSNP: rs746183882
NCBI 1000 Genomes Browser:
rs746183882
Molecular consequence:
  • NM_001127487.2:c.1840G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.5:c.1840G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Myofibrillar myopathy 5
Synonyms:
FILAMINOPATHY, AUTOSOMAL DOMINANT; Myofibrillar myopathy, filamin C-related; Filaminopathy (type)
Identifiers:
MONDO: MONDO:0012289; MedGen: C1836050; OMIM: 609524

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002576525Breda Genetics srl
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 22, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Breda Genetics srl, SCV002576525.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

The variant c.1840G>A (p.Ala614Thr) in the FLNC gene is reported with uncertain significance for FLNC-associated diseases in ClinVar (Variation ID: 1004530) and as uncertain in the Global Variome shared LOVD database v.3.0 (genomic variant: #0000610716). The variant is reported with an estimated allele frequency of 0.00002005 in gnomAD exomes with no homozygous individuals reported. The nucleotide position is conserved across 35 mammalian species (GERP RS: 4.31). In silico analysis indicates that the variant might be damaging.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024