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NM_144997.7(FLCN):c.1227C>G (p.Tyr409Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 27, 2016
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:
RCV000294917.1

Allele description [Variation Report for NM_144997.7(FLCN):c.1227C>G (p.Tyr409Ter)]

NM_144997.7(FLCN):c.1227C>G (p.Tyr409Ter)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.1227C>G (p.Tyr409Ter)
HGVS:
  • NC_000017.11:g.17216453G>C
  • NG_008001.2:g.25736C>G
  • NM_001353229.2:c.1281C>G
  • NM_001353230.2:c.1227C>G
  • NM_001353231.2:c.1227C>G
  • NM_144997.7:c.1227C>GMANE SELECT
  • NP_001340158.1:p.Tyr427Ter
  • NP_001340159.1:p.Tyr409Ter
  • NP_001340160.1:p.Tyr409Ter
  • NP_659434.2:p.Tyr409Ter
  • LRG_325t1:c.1227C>G
  • LRG_325:g.25736C>G
  • NC_000017.10:g.17119767G>C
  • NM_144997.5:c.1227C>G
Protein change:
Y409*
Links:
dbSNP: rs561236067
NCBI 1000 Genomes Browser:
rs561236067
Molecular consequence:
  • NM_001353229.2:c.1281C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353230.2:c.1227C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353231.2:c.1227C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_144997.7:c.1227C>G - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000330863GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Sep 27, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000330863.5

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

Description

The Y409X nonsense variant in the FLCN gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider Y409X to be pathogenic, and its presence consistent with a diagnosis of Birt-Hogg-Dube syndrome

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

Last Updated: Aug 11, 2024