NM_144997.7(FLCN):c.632_633delinsC (p.Glu211fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 7, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_144997.7(FLCN):c.632_633delinsC (p.Glu211fs)]

NM_144997.7(FLCN):c.632_633delinsC (p.Glu211fs)

FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
Cytogenetic location:
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.632_633delinsC (p.Glu211fs)
  • NC_000017.11:g.17222647_17222648delinsG
  • NG_008001.2:g.19541_19542delinsC
  • NM_001353229.2:c.686_687delinsC
  • NM_001353230.2:c.632_633delinsC
  • NM_001353231.2:c.632_633delinsC
  • NM_144606.7:c.632_633delinsC
  • NM_144997.7:c.632_633delinsCMANE SELECT
  • NP_001340158.1:p.Glu229fs
  • NP_001340159.1:p.Glu211fs
  • NP_001340160.1:p.Glu211fs
  • NP_653207.1:p.Glu211fs
  • NP_659434.2:p.Glu211fs
  • LRG_325t1:c.632_633delAGinsC
  • LRG_325:g.19541_19542delinsC
  • NC_000017.10:g.17125961_17125962delinsG
  • NM_144997.5:c.632_633delAGinsC
  • p.[Glu211Alafs*12]
Protein change:
OMIM: 607273.0003; dbSNP: rs879255661
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001353229.2:c.686_687delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353230.2:c.632_633delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353231.2:c.632_633delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144606.7:c.632_633delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144997.7:c.632_633delinsC - frameshift variant - [Sequence Ontology: SO:0001589]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000778963GeneDxcriteria provided, single submitter
(Jul 7, 2017)
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, SCV000778963.1

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


This combined deletion and insertion is denoted FLCN c.632_633delAGinsC at the cDNA level and p.Glu211AlafsX12 (E211AfsX12) at the protein level. The normal sequence, with the bases that are deleted and inserted in brackets, is GCAG[delAG][insC]CAGT. The variant causes a frameshift which changes a Glutamic Acid to an Alanine at codon 211, and creates a premature stop codon at position 12 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. FLCN c.632_633delAGinsC has been observed in association with Birt-Hogg-Dub? (Nickerson 2002, Schmidt 2005). We consider this variant to be pathogenic.

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

Last Updated: Sep 29, 2021

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