NM_144997.7(FLCN):c.1601del (p.Lys534fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 2, 2025
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:: RCV000255154.4

Allele description [Variation Report for NM_144997.7(FLCN):c.1601del (p.Lys534fs)]

NM_144997.7(FLCN):c.1601del (p.Lys534fs)

Gene:

FLCN:folliculin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_144997.7(FLCN):c.1601del (p.Lys534fs)

HGVS:

NC_000017.11:g.17213795del
NG_008001.2:g.28395del
NM_001353229.2:c.1655del
NM_001353230.2:c.1601del
NM_001353231.2:c.1601del
NM_144997.7:c.1601delMANE SELECT
NP_001340158.1:p.Lys552fs
NP_001340159.1:p.Lys534fs
NP_001340160.1:p.Lys534fs
NP_659434.2:p.Lys534fs
LRG_325t1:c.1601del
LRG_325:g.28395del
NC_000017.10:g.17117109del
NM_144997.5:c.1601del
NM_144997.5:c.1601delA

Protein change:

K534fs

Links:

dbSNP: rs886039371

NCBI 1000 Genomes Browser:

rs886039371

Molecular consequence:

NM_001353229.2:c.1655del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353230.2:c.1601del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353231.2:c.1601del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_144997.7:c.1601del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000321671	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (May 2, 2025)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000321671

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(May 2, 2025)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000321671.10

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

Description

Frameshift variant predicted to result in protein truncation in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 17028174)

#	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		not provided	not provided	not provided	not provided

Last Updated: May 16, 2025

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