NM_144997.7(FLCN):c.889_890del (p.Glu297fs) AND Birt-Hogg-Dube syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 30, 2021
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:: RCV000797126.5

Allele description [Variation Report for NM_144997.7(FLCN):c.889_890del (p.Glu297fs)]

NM_144997.7(FLCN):c.889_890del (p.Glu297fs)

Gene:

FLCN:folliculin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_144997.7(FLCN):c.889_890del (p.Glu297fs)

HGVS:

NC_000017.11:g.17219192_17219193del
NG_008001.2:g.22997_22998del
NM_001353229.2:c.943_944del
NM_001353230.2:c.889_890del
NM_001353231.2:c.889_890del
NM_144997.7:c.889_890delMANE SELECT
NP_001340158.1:p.Glu315fs
NP_001340159.1:p.Glu297fs
NP_001340160.1:p.Glu297fs
NP_659434.2:p.Glu297fs
LRG_325t1:c.889_890del
LRG_325:g.22997_22998del
NC_000017.10:g.17122505_17122506del
NC_000017.10:g.17122506_17122507del
NM_144997.5:c.889_890delGA

Protein change:

E297fs

Links:

dbSNP: rs1597592246

NCBI 1000 Genomes Browser:

rs1597592246

Molecular consequence:

NM_001353229.2:c.943_944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353230.2:c.889_890del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353231.2:c.889_890del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_144997.7:c.889_890del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Mus musculus component of oligomeric golgi complex 1 (Cog1), mRNA
Mus musculus component of oligomeric golgi complex 1 (Cog1), mRNA
gi|15011848|ref|NM_013581.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000936669	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 30, 2021)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 24393238, 29357828, 15852235, 28492532
SCV004032412	Division of Respiratory Medicine of Juntendo University, Juntendo University Faculty of Medicine and Graduate School of Medicine	no assertion criteria provided	Pathogenic (Jul 1, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000936669

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 30, 2021)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV004032412

Division of Respiratory Medicine of Juntendo University, Juntendo University Faculty of Medicine and Graduate School of Medicine

no assertion criteria provided

Pathogenic
(Jul 1, 2023)

germline

clinical testing

Help

Summary from all submissions

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

Citations

PubMed

Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients.

Kumasaka T, Hayashi T, Mitani K, Kataoka H, Kikkawa M, Tobino K, Kobayashi E, Gunji Y, Kunogi M, Kurihara M, Seyama K.

Histopathology. 2014 Jul;65(1):100-10. doi: 10.1111/his.12368. Epub 2014 Mar 4.

PubMed [citation]

PMID:: 24393238
PMCID:: PMC4237186

Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.

Hou X, Zhou Y, Peng Y, Qiu R, Xia K, Tang B, Zhuang W, Jiang H.

BMC Med Genet. 2018 Jan 22;19(1):14. doi: 10.1186/s12881-017-0519-z.

PubMed [citation]

PMID:: 29357828
PMCID:: PMC5776768

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000936669.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This premature translational stop signal has been observed in individual(s) with Birt-Hogg-Dub√© syndrome (PMID: 24393238, 29357828). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu297Lysfs*6) in the FLCN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). ClinVar contains an entry for this variant (Variation ID: 643432). For these reasons, this variant has been classified as Pathogenic.

#	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

From Division of Respiratory Medicine of Juntendo University, Juntendo University Faculty of Medicine and Graduate School of Medicine, SCV004032412.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Sep 29, 2024

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