NM_001458.4(FLNC):c.6888C>T (p.His2296=) AND not provided

Clinical significance:Likely benign (Last evaluated: Oct 19, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000529540.9

Allele description [Variation Report for NM_001458.4(FLNC):c.6888C>T (p.His2296=)]

NM_001458.4(FLNC):c.6888C>T (p.His2296=)

Genes:
FLNC-AS1:FLNC antisense RNA 1 [Gene - HGNC]
FLNC:filamin C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q32.1
Genomic location:
Preferred name:
NM_001458.4(FLNC):c.6888C>T (p.His2296=)
HGVS:
  • NC_000007.14:g.128854573C>T
  • NG_011807.1:g.29145C>T
  • NM_001127487.2:c.6789C>T
  • NM_001458.4:c.6888C>T
  • NP_001120959.1:p.His2263=
  • NP_001449.3:p.His2296=
  • LRG_870t1:c.6888C>T
  • LRG_870:g.29145C>T
  • LRG_870p1:p.His2296=
  • NC_000007.13:g.128494627C>T
Links:
dbSNP: rs375259002
NCBI 1000 Genomes Browser:
rs375259002
Molecular consequence:
  • NM_001127487.2:c.6789C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001458.4:c.6888C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001155278CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Mar 1, 2019)
germlineclinical testing

Citation Link,

SCV001805403GeneDxcriteria provided, single submitter
Likely benign
(Oct 19, 2020)
germlineclinical testing

Citation Link,

SCV001928994Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

SCV001956873Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001155278.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001805403.1

#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, SCV001928994.1

#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, SCV001956873.1

#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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