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NM_144997.7(FLCN):c.1525GAG[1] (p.Glu510del) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 25, 2018
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:
RCV000489596.2

Allele description [Variation Report for NM_144997.7(FLCN):c.1525GAG[1] (p.Glu510del)]

NM_144997.7(FLCN):c.1525GAG[1] (p.Glu510del)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.1525GAG[1] (p.Glu510del)
HGVS:
  • NC_000017.11:g.17214995CCT[1]
  • NG_008001.2:g.27191GAG[1]
  • NM_001353229.2:c.1579GAG[1]
  • NM_001353230.2:c.1525GAG[1]
  • NM_001353231.2:c.1525GAG[1]
  • NM_144997.7:c.1525GAG[1]MANE SELECT
  • NP_001340158.1:p.Glu528del
  • NP_001340159.1:p.Glu510del
  • NP_001340160.1:p.Glu510del
  • NP_659434.2:p.Glu510del
  • LRG_325t1:c.1528_1530del
  • LRG_325:g.27191GAG[1]
  • NC_000017.10:g.17118309CCT[1]
  • NM_144997.5:c.1528_1530delGAG
  • p.[Glu510del]
Protein change:
E510del
Links:
dbSNP: rs879255681
NCBI 1000 Genomes Browser:
rs879255681
Molecular consequence:
  • NM_001353229.2:c.1579GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001353230.2:c.1525GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001353231.2:c.1525GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_144997.7:c.1525GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000577522GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Apr 25, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000577522.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1528_1530delGAG variant in the FLCN gene is an in-frame deletion that is predicted to eliminate the Glutamic Acid residue at amino acid position 510. This variant has been previously reported in association with Birt-Hogg-Dube syndrome (for examples, see Toro et al., 2008; Benusiglio et al., 2014; Furuya et al., 2017). Functional studies show this variant reduced protein expression and significantly disrupted protein stability (Nahorski et al., 2011). The residue deleted occurs at a position that is conserved across species, but is not located within a known functional domain. Based on currently available evidence, we consider c.1528_1530delGAG to be pathogenic,

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

Last Updated: May 16, 2025