NM_001458.5(FLNC):c.8070G>T (p.Arg2690=) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Aug 20, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000696363.4

Allele description [Variation Report for NM_001458.5(FLNC):c.8070G>T (p.Arg2690=)]

NM_001458.5(FLNC):c.8070G>T (p.Arg2690=)

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.8070G>T (p.Arg2690=)
HGVS:
  • NC_000007.14:g.128858415G>T
  • NG_011807.1:g.32987G>T
  • NM_001127487.2:c.7971G>T
  • NM_001458.4:c.8070G>T
  • NM_001458.5:c.8070G>TMANE SELECT
  • NP_001120959.1:p.Arg2657=
  • NP_001449.3:p.Arg2690=
  • NP_001449.3:p.Arg2690=
  • LRG_870t1:c.8070G>T
  • LRG_870:g.32987G>T
  • LRG_870p1:p.Arg2690=
  • NC_000007.13:g.128498469G>T
Links:
dbSNP: rs373087529
NCBI 1000 Genomes Browser:
rs373087529
Molecular consequence:
  • NM_001127487.2:c.7971G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001458.4:c.8070G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001458.5:c.8070G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Myofibrillar myopathy, filamin C-related (MFM5)
Synonyms:
FILAMINOPATHY, AUTOSOMAL DOMINANT; MYOPATHY, MYOFIBRILLAR, 5; Filaminopathy (type)
Identifiers:
MONDO: MONDO:0012289; MedGen: C1836050; OMIM: 609524
Name:
Myopathy, distal, 4 (MPD4)
Synonyms:
WILLIAMS DISTAL MYOPATHY
Identifiers:
MONDO: MONDO:0013550; MedGen: C3279722; Orphanet: 63273; OMIM: 614065
Name:
Cardiomyopathy, familial hypertrophic, 26 (CMH26)
Identifiers:
MONDO: MONDO:0014883; MedGen: C4310749; Orphanet: 75249; OMIM: 617047
Name:
Dilated Cardiomyopathy, Dominant
Identifiers:
MedGen: CN239310

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000824921Invitaecriteria provided, single submitter
Uncertain significance
(Aug 20, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000824921.4

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

Description

This sequence change affects codon 2690 of the FLNC mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FLNC protein. This variant is present in population databases (rs373087529, ExAC 0.01%). This variant has not been reported in the literature in individuals with FLNC-related disease. ClinVar contains an entry for this variant (Variation ID: 290396). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Nov 27, 2021

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