NM_001458.5(FLNC):c.5888C>T (p.Thr1963Met) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 11, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV001528483.5

Allele description [Variation Report for NM_001458.5(FLNC):c.5888C>T (p.Thr1963Met)]

NM_001458.5(FLNC):c.5888C>T (p.Thr1963Met)

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_001458.5(FLNC):c.5888C>T (p.Thr1963Met)
HGVS:
  • NC_000007.14:g.128852636C>T
  • NG_011807.1:g.27208C>T
  • NM_001127487.2:c.5789C>T
  • NM_001458.5:c.5888C>TMANE SELECT
  • NP_001120959.1:p.Thr1930Met
  • NP_001449.3:p.Thr1963Met
  • NP_001449.3:p.Thr1963Met
  • LRG_870t1:c.5888C>T
  • LRG_870:g.27208C>T
  • LRG_870p1:p.Thr1963Met
  • NC_000007.13:g.128492690C>T
  • NM_001458.4:c.5888C>T
Protein change:
T1930M
Links:
dbSNP: rs772580545
NCBI 1000 Genomes Browser:
rs772580545
Molecular consequence:
  • NM_001127487.2:c.5789C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.5:c.5888C>T - 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
SCV001740304Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedUncertain significancegermlineclinical testing

SCV001796580GeneDxcriteria provided, single submitter
Uncertain significance
(May 11, 2020)
germlineclinical testing

Citation Link,

SCV001932822Genome 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 Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001740304.3

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

From GeneDx, SCV001796580.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported in an individual with HCM (Cui et al., 2018); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 567356; Landrum et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30411535)

#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, SCV001932822.1

#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: Dec 4, 2021

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