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NM_144997.7(FLCN):c.199dup (p.Ala67fs) AND Birt-Hogg-Dube syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003326170.2

Allele description [Variation Report for NM_144997.7(FLCN):c.199dup (p.Ala67fs)]

NM_144997.7(FLCN):c.199dup (p.Ala67fs)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.199dup (p.Ala67fs)
HGVS:
  • NC_000017.11:g.17227943dup
  • NG_008001.2:g.14250dup
  • NM_001353229.2:c.199dup
  • NM_001353230.2:c.199dup
  • NM_001353231.2:c.199dup
  • NM_144606.7:c.199dup
  • NM_144997.7:c.199dupMANE SELECT
  • NP_001340158.1:p.Ala67fs
  • NP_001340159.1:p.Ala67fs
  • NP_001340160.1:p.Ala67fs
  • NP_653207.1:p.Ala67fs
  • NP_659434.2:p.Ala67Glyfs
  • NP_659434.2:p.Ala67fs
  • LRG_325t1:c.195dup
  • LRG_325:g.14250dup
  • LRG_325p1:p.Ala67Glyfs
  • NC_000017.10:g.17131257dup
  • NM_144997.5:c.195dup
  • NM_144997.5:c.199dupG
  • NM_144997.7:c.199dupGMANE SELECT
Protein change:
A67fs
Links:
dbSNP: rs1555611438
NCBI 1000 Genomes Browser:
rs1555611438
Molecular consequence:
  • NM_001353229.2:c.199dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353230.2:c.199dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353231.2:c.199dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144606.7:c.199dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144997.7:c.199dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Birt-Hogg-Dube syndrome
Synonyms:
Birt Hogg Dubé syndrome
Identifiers:
MONDO: MONDO:0800444; MedGen: C0346010; Orphanet: 122; OMIM: PS135150

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004032377Division of Respiratory Medicine of Juntendo University, Juntendo University Faculty of Medicine and Graduate School of Medicine
no assertion criteria provided
Pathogenic
(Jul 1, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Division of Respiratory Medicine of Juntendo University, Juntendo University Faculty of Medicine and Graduate School of Medicine, SCV004032377.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 5, 2025