NM_144997.7(FLCN):c.199dup (p.Ala67fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 26, 2025
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:: RCV005834484.1

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

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:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Hereditary neoplastic syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV006526217	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jun 26, 2025)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 27220747, 37490463 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV006526217

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jun 26, 2025)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome.

Furuya M, Yao M, Tanaka R, Nagashima Y, Kuroda N, Hasumi H, Baba M, Matsushima J, Nomura F, Nakatani Y.

Clin Genet. 2016 Nov;90(5):403-412. doi: 10.1111/cge.12807. Epub 2016 Jun 30.

PubMed [citation]

PMID:: 27220747

Clinical and genetic features of 334 Asian patients with Birt-Hogg-Dubé syndrome (BHDS) who presented with pulmonary cysts with or without a history of pneumothorax, with special reference to BHDS-associated pneumothorax.

Namba Y, Ebana H, Okamoto S, Kobayashi E, Kurihara M, Sekimoto Y, Tsuboshima K, Okura MK, Mitsuishi Y, Takahashi K, Seyama K.

PLoS One. 2023;18(7):e0289175. doi: 10.1371/journal.pone.0289175. Review.

PubMed [citation]

PMID:: 37490463
PMCID:: PMC10368292

Details of each submission

From Ambry Genetics, SCV006526217.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The c.199dupG pathogenic mutation, located in coding exon 1 of the FLCN gene, results from a duplication of G at nucleotide position 199, causing a translational frameshift with a predicted alternate stop codon (p.A67Gfs*33). This variant was reported in individual(s) with features consistent with Birt-Hogg-Dube syndrome (Namba Y et al. PLoS One, 2023 Jul;18:e0289175). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 12, 2026

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