NM_144997.7(FLCN):c.1525GAG[1] (p.Glu510del) AND Birt-Hogg-Dube syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 18, 2016
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:: RCV000239692.3

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]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000298089	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	criteria provided, single submitter (DGD Variant Analysis Guidelines)	Likely pathogenic (Jul 18, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000298089

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

criteria provided, single submitter

(DGD Variant Analysis Guidelines)

Likely pathogenic
(Jul 18, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000298089.2

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided

Last Updated: May 16, 2025

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