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NM_144997.7(FLCN):c.1063-10_1065del AND Birt-Hogg-Dube syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003326267.2

Allele description [Variation Report for NM_144997.7(FLCN):c.1063-10_1065del]

NM_144997.7(FLCN):c.1063-10_1065del

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.1063-10_1065del
HGVS:
  • NC_000017.11:g.17217182_17217194del
  • NG_008001.2:g.24997_25009del
  • NM_001353229.2:c.1117-10_1119del
  • NM_001353230.2:c.1063-10_1065del
  • NM_001353231.2:c.1063-10_1065del
  • NM_144997.7:c.1063-10_1065delMANE SELECT
  • LRG_325:g.24997_25009del
  • NC_000017.10:g.17120496_17120508del
Molecular consequence:
  • NM_001353229.2:c.1117-10_1119del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001353230.2:c.1063-10_1065del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001353231.2:c.1063-10_1065del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_144997.7:c.1063-10_1065del - splice acceptor variant - [Sequence Ontology: SO:0001574]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004032389Division of Respiratory Medicine of Juntendo University, Juntendo University Faculty of Medicine and Graduate School of Medicine
no assertion criteria provided
Pathogenic
(Jul 1, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Division of Respiratory Medicine of Juntendo University, Juntendo University Faculty of Medicine and Graduate School of Medicine, SCV004032389.1

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

Last Updated: Jun 9, 2024