NM_144997.7(FLCN):c.887C>G (p.Ser296Ter) AND Birt-Hogg-Dube syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 20, 2022
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:: RCV000692102.5

Allele description [Variation Report for NM_144997.7(FLCN):c.887C>G (p.Ser296Ter)]

NM_144997.7(FLCN):c.887C>G (p.Ser296Ter)

Gene:

FLCN:folliculin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_144997.7(FLCN):c.887C>G (p.Ser296Ter)

HGVS:

NC_000017.11:g.17219194G>C
NG_008001.2:g.22995C>G
NM_001353229.2:c.941C>G
NM_001353230.2:c.887C>G
NM_001353231.2:c.887C>G
NM_144997.7:c.887C>GMANE SELECT
NP_001340158.1:p.Ser314Ter
NP_001340159.1:p.Ser296Ter
NP_001340160.1:p.Ser296Ter
NP_659434.2:p.Ser296Ter
LRG_325t1:c.887C>G
LRG_325:g.22995C>G
NC_000017.10:g.17122508G>C
NM_144997.5:c.887C>G

Protein change:

S296*

Links:

dbSNP: rs1490424623

NCBI 1000 Genomes Browser:

rs1490424623

Molecular consequence:

NM_001353229.2:c.941C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001353230.2:c.887C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001353231.2:c.887C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_144997.7:c.887C>G - nonsense - [Sequence Ontology: SO:0001587]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000819910	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Feb 20, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 30586397, 15852235, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000819910

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Feb 20, 2022)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Kidney cancer characteristics and genotype-phenotype-correlations in Birt-Hogg-Dubé syndrome.

Sattler EC, Reithmair M, Steinlein OK.

PLoS One. 2018;13(12):e0209504. doi: 10.1371/journal.pone.0209504.

PubMed [citation]

PMID:: 30586397
PMCID:: PMC6306193

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ, Turner ML, Choyke PL, Sharma N, Peterson J, Morrison P, Maher ER, Walther MM, Zbar B, Linehan WM.

Am J Hum Genet. 2005 Jun;76(6):1023-33. Epub 2005 Apr 25.

PubMed [citation]

PMID:: 15852235
PMCID:: PMC1196440

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000819910.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 571069). This premature translational stop signal has been observed in individual(s) with Birt-Hogge-Dub√© syndrome (PMID: 30586397). This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Ser296*) 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).

#	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: Sep 29, 2024

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