NM_001458.5(FLNC):c.1924G>A (p.Val642Ile) AND not provided

Clinical significance:Likely benign (Last evaluated: May 5, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV001546268.3

Allele description [Variation Report for NM_001458.5(FLNC):c.1924G>A (p.Val642Ile)]

NM_001458.5(FLNC):c.1924G>A (p.Val642Ile)

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.1924G>A (p.Val642Ile)
HGVS:
  • NC_000007.14:g.128841280G>A
  • NG_011807.1:g.15852G>A
  • NM_001127487.2:c.1924G>A
  • NM_001458.4:c.1924G>A
  • NM_001458.5:c.1924G>AMANE SELECT
  • NP_001120959.1:p.Val642Ile
  • NP_001449.3:p.Val642Ile
  • NP_001449.3:p.Val642Ile
  • LRG_870t1:c.1924G>A
  • LRG_870:g.15852G>A
  • LRG_870p1:p.Val642Ile
  • NC_000007.13:g.128481334G>A
Protein change:
V642I
Links:
dbSNP: rs369387744
NCBI 1000 Genomes Browser:
rs369387744
Molecular consequence:
  • NM_001127487.2:c.1924G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.4:c.1924G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.5:c.1924G>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
SCV001765760GeneDxcriteria provided, single submitter
Likely benign
(May 5, 2021)
germlineclinical testing

Citation Link,

SCV001807415Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensusno assertion criteria providedUncertain significancegermlineclinical testing

SCV001927442Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedUncertain significancegermlineclinical testing

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001765760.1

#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# 471991; Landrum et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function

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

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001807415.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001927442.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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