NM_144997.7(FLCN):c.3G>A (p.Met1Ile) AND Birt-Hogg-Dube syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 6, 2023
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:: RCV003450203.1

Allele description [Variation Report for NM_144997.7(FLCN):c.3G>A (p.Met1Ile)]

NM_144997.7(FLCN):c.3G>A (p.Met1Ile)

Gene:

FLCN:folliculin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_144997.7(FLCN):c.3G>A (p.Met1Ile)

HGVS:

NC_000017.11:g.17228135C>T
NG_008001.2:g.14054G>A
NM_001353229.2:c.3G>A
NM_001353230.2:c.3G>A
NM_001353231.2:c.3G>A
NM_144606.7:c.3G>A
NM_144997.7:c.3G>AMANE SELECT
NP_001340158.1:p.Met1Ile
NP_001340159.1:p.Met1Ile
NP_001340160.1:p.Met1Ile
NP_653207.1:p.Met1Ile
NP_659434.2:p.Met1Ile
NP_659434.2:p.Met1Ile
LRG_325t1:c.3G>A
LRG_325:g.14054G>A
LRG_325p1:p.Met1Ile
NC_000017.10:g.17131449C>T
NM_144997.5:c.3G>A

Protein change:

M1I

Molecular consequence:

NM_001353229.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001353230.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001353231.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_144606.7:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_144997.7:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001353229.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353230.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353231.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_144606.7:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_144997.7:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

EC2CAA44BC03.g1 Xenopus tropicalis xthr plasmid library Xenopus tropicalis cDNA ...
EC2CAA44BC03.g1 Xenopus tropicalis xthr plasmid library Xenopus tropicalis cDNA clone xthr44E06 5', mRNA sequence
gi|45909019|gnl|dbEST|22229512|gb|C 23.1|

Nucleotide
JGI_XZG21364.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7536808 5'...
JGI_XZG21364.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7536808 5', mRNA sequence
gi|73757064|gnl|dbEST|31018279|gb|C 62.2|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004189007	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Jul 6, 2023)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 22146830, 19802896, 17034545 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004189007

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Pathogenic
(Jul 6, 2023)

unknown

clinical testing

PubMed (3)
[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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.

Houweling AC, Gijezen LM, Jonker MA, van Doorn MB, Oldenburg RA, van Spaendonck-Zwarts KY, Leter EM, van Os TA, van Grieken NC, Jaspars EH, de Jong MM, Bongers EM, Johannesma PC, Postmus PE, van Moorselaar RJ, van Waesberghe JH, Starink TM, van Steensel MA, Gille JJ, Menko FH.

Br J Cancer. 2011 Dec 6;105(12):1912-9. doi: 10.1038/bjc.2011.463.

PubMed [citation]

PMID:: 22146830
PMCID:: PMC3251884

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

Lim DH, Rehal PK, Nahorski MS, Macdonald F, Claessens T, Van Geel M, Gijezen L, Gille JJ, Giraud S, Richard S, van Steensel M, Menko FH, Maher ER.

Hum Mutat. 2010 Jan;31(1):E1043-51. doi: 10.1002/humu.21130.

PubMed [citation]

PMID:: 19802896

See all PubMed Citations (3)

Details of each submission

From Myriad Genetics, Inc., SCV004189007.1

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

Description

This variant is considered pathogenic. This variant is located within the gene translation start codon (p.Met1?) and is predicted to result in abnormal protein translation. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 22146830, 19802896, 17034545].

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

Last Updated: Jun 9, 2024

ClinVar

Relating variation to medicine