NM_001458.5(FLNC):c.2842G>A (p.Gly948Arg) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 2, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001570072.3

Allele description [Variation Report for NM_001458.5(FLNC):c.2842G>A (p.Gly948Arg)]

NM_001458.5(FLNC):c.2842G>A (p.Gly948Arg)

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.2842G>A (p.Gly948Arg)
HGVS:
  • NC_000007.14:g.128843826G>A
  • NG_011807.1:g.18398G>A
  • NM_001127487.2:c.2842G>A
  • NM_001458.4:c.2842G>A
  • NM_001458.5:c.2842G>AMANE SELECT
  • NP_001120959.1:p.Gly948Arg
  • NP_001449.3:p.Gly948Arg
  • NP_001449.3:p.Gly948Arg
  • LRG_870t1:c.2842G>A
  • LRG_870:g.18398G>A
  • LRG_870p1:p.Gly948Arg
  • NC_000007.13:g.128483880G>A
Protein change:
G948R
Links:
dbSNP: rs768103657
NCBI 1000 Genomes Browser:
rs768103657
Molecular consequence:
  • NM_001127487.2:c.2842G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.4:c.2842G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.5:c.2842G>A - 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
SCV001794279GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 2, 2020)
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, SCV001794279.1

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID#472021; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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

Last Updated: Oct 25, 2021

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