NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln) AND not provided

Clinical significance:Likely benign

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001573925.2

Allele description [Variation Report for NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln)]

NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln)

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.1577G>A (p.Arg526Gln)
HGVS:
  • NC_000007.14:g.128840575G>A
  • NG_011807.1:g.15147G>A
  • NM_001127487.2:c.1577G>A
  • NM_001458.4:c.1577G>A
  • NM_001458.5:c.1577G>AMANE SELECT
  • NP_001120959.1:p.Arg526Gln
  • NP_001449.3:p.Arg526Gln
  • NP_001449.3:p.Arg526Gln
  • LRG_870t1:c.1577G>A
  • LRG_870:g.15147G>A
  • LRG_870p1:p.Arg526Gln
  • NC_000007.13:g.128480629G>A
  • NC_000007.13:g.128480629G>A
Protein change:
R526Q
Links:
dbSNP: rs34932223
NCBI 1000 Genomes Browser:
rs34932223
Molecular consequence:
  • NM_001127487.2:c.1577G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.4:c.1577G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.5:c.1577G>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
SCV001800485Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

SCV001968659Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001800485.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001968659.1

#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: Oct 25, 2021

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