NM_001458.5(FLNC):c.3133C>A (p.His1045Asn) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 23, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000497327.1

Allele description [Variation Report for NM_001458.5(FLNC):c.3133C>A (p.His1045Asn)]

NM_001458.5(FLNC):c.3133C>A (p.His1045Asn)

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.3133C>A (p.His1045Asn)
HGVS:
  • NC_000007.14:g.128844207C>A
  • NG_011807.1:g.18779C>A
  • NM_001127487.2:c.3133C>A
  • NM_001458.4:c.3133C>A
  • NM_001458.5:c.3133C>AMANE SELECT
  • NP_001120959.1:p.His1045Asn
  • NP_001449.3:p.His1045Asn
  • NP_001449.3:p.His1045Asn
  • LRG_870t1:c.3133C>A
  • LRG_870:g.18779C>A
  • LRG_870p1:p.His1045Asn
  • NC_000007.13:g.128484261C>A
Protein change:
H1045N
Links:
dbSNP: rs201863231
NCBI 1000 Genomes Browser:
rs201863231
Molecular consequence:
  • NM_001127487.2:c.3133C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.4:c.3133C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.5:c.3133C>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
SCV000590513GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 23, 2017)
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, SCV000590513.3

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

Description

The c.3133 C>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.3133 C>A variant is observed in 6/63416 (0.01%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Multiple in-silico splice prediction models predict that c.3133 C>A creates a cryptic splice donor site which may supplant the natural donor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies the actual effect of c.3133 C>A on splicing in this individual is unknown. If c.3133 C>A does not alter splicing, it will result in the H1045N missense change. The H1045N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals; however, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with FLNC-related disorders (Stenson et al., 2014). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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

Last Updated: Nov 27, 2021

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