NM_001458.4(FLNC):c.4737+9_4737+10del AND not specified

Clinical significance:Benign (Last evaluated: Dec 17, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000176729.4

Allele description [Variation Report for NM_001458.4(FLNC):c.4737+9_4737+10del]

NM_001458.4(FLNC):c.4737+9_4737+10del

Gene:
FLNC:filamin C [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
7q32.1
Genomic location:
Preferred name:
NM_001458.4(FLNC):c.4737+9_4737+10del
HGVS:
  • NC_000007.14:g.128848724_128848725CT[1]
  • NG_011807.1:g.23296_23297CT[1]
  • NM_001127487.2:c.4737+9_4737+10del
  • NM_001458.4:c.4737+9_4737+10del
  • LRG_870t1:c.4737+9_4737+10del
  • LRG_870:g.23296_23297CT[1]
  • NC_000007.13:g.128488777_128488778del
  • NC_000007.13:g.128488778_128488779CT[1]
  • NM_001458.4:c.4737+9_4737+10delCT
Links:
dbSNP: rs794727437
NCBI 1000 Genomes Browser:
rs794727437
Molecular consequence:
  • NM_001127487.2:c.4737+9_4737+10del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001458.4:c.4737+9_4737+10del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000228437EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Dec 17, 2014)
germlineclinical testing

Citation Link,

SCV001924858Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

SCV001959598Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

SCV001966226Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000228437.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001924858.1

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

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001959598.1

#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, SCV001966226.1

#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 6, 2021

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