U.S. flag

An official website of the United States government

NM_144997.7(FLCN):c.1098G>A (p.Trp366Ter) AND Birt-Hogg-Dube syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jul 18, 2016
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000239618.6

Allele description [Variation Report for NM_144997.7(FLCN):c.1098G>A (p.Trp366Ter)]

NM_144997.7(FLCN):c.1098G>A (p.Trp366Ter)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.1098G>A (p.Trp366Ter)
HGVS:
  • NC_000017.11:g.17217147C>T
  • NG_008001.2:g.25042G>A
  • NM_001353229.2:c.1152G>A
  • NM_001353230.2:c.1098G>A
  • NM_001353231.2:c.1098G>A
  • NM_144997.7:c.1098G>AMANE SELECT
  • NP_001340158.1:p.Trp384Ter
  • NP_001340159.1:p.Trp366Ter
  • NP_001340160.1:p.Trp366Ter
  • NP_659434.2:p.Trp366Ter
  • LRG_325t1:c.1098G>A
  • LRG_325:g.25042G>A
  • NC_000017.10:g.17120461C>T
  • NM_001353230.2:c.1098G>A
  • NM_144997.5:c.1098G>A
  • p.[Trp366*]
Protein change:
W366*
Links:
dbSNP: rs879255672
NCBI 1000 Genomes Browser:
rs879255672
Molecular consequence:
  • NM_001353229.2:c.1152G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353230.2:c.1098G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353231.2:c.1098G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_144997.7:c.1098G>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
2

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

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000298070Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
criteria provided, single submitter

(DGD Variant Analysis Guidelines)		Pathogenic
(Jul 18, 2016) 		germlineclinical testing

Citation Link,

SCV003930445Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicgermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
Caucasiangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000298070.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University, SCV003930445.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 4, 2024