NM_144997.7(FLCN):c.708del (p.Asn236fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 24, 2022
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:: RCV002365271.2

Allele description [Variation Report for NM_144997.7(FLCN):c.708del (p.Asn236fs)]

NM_144997.7(FLCN):c.708del (p.Asn236fs)

Gene:

FLCN:folliculin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_144997.7(FLCN):c.708del (p.Asn236fs)

HGVS:

NC_000017.11:g.17222572del
NG_008001.2:g.19617del
NM_001353229.2:c.762del
NM_001353230.2:c.708del
NM_001353231.2:c.708del
NM_144606.7:c.708del
NM_144997.7:c.708delMANE SELECT
NP_001340158.1:p.Asn254fs
NP_001340159.1:p.Asn236fs
NP_001340160.1:p.Asn236fs
NP_653207.1:p.Asn236fs
NP_659434.2:p.Asn236fs
LRG_325t1:c.708del
LRG_325:g.19617del
NC_000017.10:g.17125886del
NM_144997.5:c.708del
NM_144997.5:c.708delC

Protein change:

N236fs

Links:

dbSNP: rs886039369

NCBI 1000 Genomes Browser:

rs886039369

Molecular consequence:

NM_001353229.2:c.762del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353230.2:c.708del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353231.2:c.708del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_144606.7:c.708del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_144997.7:c.708del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Hereditary neoplastic syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002664050	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Oct 24, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002664050

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Oct 24, 2022)

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

Details of each submission

From Ambry Genetics, SCV002664050.2

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

Description

The c.708delC pathogenic mutation, located in coding exon 4 of the FLCN gene, results from a deletion of one nucleotide at nucleotide position 708, causing a translational frameshift with a predicted alternate stop codon (p.N236Kfs*6). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 16, 2025

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