NM_001458.5(FLNC):c.2491G>A (p.Val831Ile) AND not provided

Clinical significance:Uncertain significance

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:
RCV001701427.2

Allele description [Variation Report for NM_001458.5(FLNC):c.2491G>A (p.Val831Ile)]

NM_001458.5(FLNC):c.2491G>A (p.Val831Ile)

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.2491G>A (p.Val831Ile)
HGVS:
  • NC_000007.14:g.128842895G>A
  • NG_011807.1:g.17467G>A
  • NM_001127487.2:c.2491G>A
  • NM_001458.4:c.2491G>A
  • NM_001458.5:c.2491G>AMANE SELECT
  • NP_001120959.1:p.Val831Ile
  • NP_001449.3:p.Val831Ile
  • NP_001449.3:p.Val831Ile
  • LRG_870t1:c.2491G>A
  • LRG_870:g.17467G>A
  • LRG_870p1:p.Val831Ile
  • NC_000007.13:g.128482949G>A
Protein change:
V831I
Links:
dbSNP: rs746478952
NCBI 1000 Genomes Browser:
rs746478952
Molecular consequence:
  • NM_001127487.2:c.2491G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.4:c.2491G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.5:c.2491G>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
SCV001917690Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedUncertain significancegermlineclinical testing

SCV001963313Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno 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 Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001917690.1

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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001963313.1

#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 6, 2021

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