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NM_144997.7(FLCN):c.33C>G (p.Cys11Trp) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 15, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001812962.14

Allele description [Variation Report for NM_144997.7(FLCN):c.33C>G (p.Cys11Trp)]

NM_144997.7(FLCN):c.33C>G (p.Cys11Trp)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.33C>G (p.Cys11Trp)
HGVS:
  • NC_000017.11:g.17228105G>C
  • NG_008001.2:g.14084C>G
  • NM_001353229.2:c.33C>G
  • NM_001353230.2:c.33C>G
  • NM_001353231.2:c.33C>G
  • NM_144606.7:c.33C>G
  • NM_144997.7:c.33C>GMANE SELECT
  • NP_001340158.1:p.Cys11Trp
  • NP_001340159.1:p.Cys11Trp
  • NP_001340160.1:p.Cys11Trp
  • NP_653207.1:p.Cys11Trp
  • NP_659434.2:p.Cys11Trp
  • LRG_325:g.14084C>G
  • NC_000017.10:g.17131419G>C
Protein change:
C11W
Links:
dbSNP: rs754616167
NCBI 1000 Genomes Browser:
rs754616167
Molecular consequence:
  • NM_001353229.2:c.33C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353230.2:c.33C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353231.2:c.33C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144606.7:c.33C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144997.7:c.33C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001472650ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Likely pathogenic
(Jun 15, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001472650.1

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

Description

The FLCN c.33C>G; p.Cys11Trp variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. Additionally, another variant at this codon (c.31C>T, p.Cys11Arg) have been reported in individuals with Birt-Hogg-Dube syndrome (Lee 2019). The cysteine at codon 11 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Based on available information, this variant is considered to be likely pathogenic. References: Lee et al. Birt-Hogg-Dubé Syndrome in Korean: Clinicoradiologic Features and Long Term Follow-Up. Korean J Intern Med. 2019 Jul;34(4):830-840.

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

Last Updated: Oct 13, 2024