NM_001458.5(FLNC):c.5792G>T (p.Arg1931Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 28, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001662705.2

Allele description [Variation Report for NM_001458.5(FLNC):c.5792G>T (p.Arg1931Leu)]

NM_001458.5(FLNC):c.5792G>T (p.Arg1931Leu)

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.5792G>T (p.Arg1931Leu)
HGVS:
  • NC_000007.14:g.128851578G>T
  • NG_011807.1:g.26150G>T
  • NM_001127487.2:c.5693G>T
  • NM_001458.4:c.5792G>T
  • NM_001458.5:c.5792G>TMANE SELECT
  • NP_001120959.1:p.Arg1898Leu
  • NP_001449.3:p.Arg1931Leu
  • NP_001449.3:p.Arg1931Leu
  • LRG_870t1:c.5792G>T
  • LRG_870:g.26150G>T
  • LRG_870p1:p.Arg1931Leu
  • NC_000007.13:g.128491632G>T
Protein change:
R1898L
Links:
dbSNP: rs780685346
NCBI 1000 Genomes Browser:
rs780685346
Molecular consequence:
  • NM_001127487.2:c.5693G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.4:c.5792G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.5:c.5792G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001875349GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 28, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001875349.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Nov 6, 2021

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