NM_144997.7(FLCN):c.715C>T (p.Arg239Cys) AND not provided

Clinical significance:Likely benign (Last evaluated: May 13, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000656850.2

Allele description [Variation Report for NM_144997.7(FLCN):c.715C>T (p.Arg239Cys)]

NM_144997.7(FLCN):c.715C>T (p.Arg239Cys)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys)
HGVS:
  • NC_000017.11:g.17222565G>A
  • NG_008001.2:g.19624C>T
  • NM_001353229.2:c.769C>T
  • NM_001353230.2:c.715C>T
  • NM_001353231.2:c.715C>T
  • NM_144606.7:c.715C>T
  • NM_144997.7:c.715C>TMANE SELECT
  • NP_001340158.1:p.Arg257Cys
  • NP_001340159.1:p.Arg239Cys
  • NP_001340160.1:p.Arg239Cys
  • NP_653207.1:p.Arg239Cys
  • NP_659434.2:p.Arg239Cys
  • LRG_325t1:c.715C>T
  • LRG_325:g.19624C>T
  • NC_000017.10:g.17125879G>A
  • NM_144606.5:c.715C>T
  • NM_144997.5:c.715C>T
  • Q8NFG4:p.Arg239Cys
  • p.R239C
  • p.[Arg239Cys]
Protein change:
R239C
Links:
UniProtKB: Q8NFG4#VAR_066026; dbSNP: rs78683075
NCBI 1000 Genomes Browser:
rs78683075
Molecular consequence:
  • NM_001353229.2:c.769C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353230.2:c.715C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353231.2:c.715C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144606.7:c.715C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144997.7:c.715C>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
SCV000616724GeneDxcriteria provided, single submitter
Likely benign
(May 13, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000616724.3

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with FLCN-related tumors and other cancers (Woodward 2008, Whitworth 2016, Melloni 2017); Also known as c.1213C>T; This variant is associated with the following publications: (PMID: 23784378, 26608100, 25637381, 28873162, 20981092, 21538689, 24055113, 19802896, 19562744, 23155228, 26334087, 23217326, 23820649, 26659639, 23414156, 24728327, 28569218, 18794106, 28785590, 29357828, 28970150, 33137092, 33858678)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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