NM_144997.7(FLCN):c.715C>T (p.Arg239Cys) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: May 3, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000163388.4

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]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000213928Ambry Geneticscriteria provided, single submitter
Likely benign
(May 3, 2019)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.

Woodward ER, Ricketts C, Killick P, Gad S, Morris MR, Kavalier F, Hodgson SV, Giraud S, Bressac-de Paillerets B, Chapman C, Escudier B, Latif F, Richard S, Maher ER.

Clin Cancer Res. 2008 Sep 15;14(18):5925-30. doi: 10.1158/1078-0432.CCR-08-0608.

PubMed [citation]
PMID:
18794106

Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.

Nahorski MS, Reiman A, Lim DH, Nookala RK, Seabra L, Lu X, Fenton J, Boora U, Nordenskjöld M, Latif F, Hurst LD, Maher ER.

Hum Mutat. 2011 Aug;32(8):921-9. doi: 10.1002/humu.21519. Epub 2011 Jul 12.

PubMed [citation]
PMID:
21538689
See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV000213928.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (6)

Description

Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Other data supporting benign classification;Subpopulation frequency in support of benign classification

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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