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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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004189007Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Jul 6, 2023) 		unknownclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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].

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024