NM_144997.7(FLCN):c.943G>T (p.Glu315Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 14, 2014
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:: RCV000130322.2

Allele description [Variation Report for NM_144997.7(FLCN):c.943G>T (p.Glu315Ter)]

NM_144997.7(FLCN):c.943G>T (p.Glu315Ter)

Gene:

FLCN:folliculin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_144997.7(FLCN):c.943G>T (p.Glu315Ter)

HGVS:

NC_000017.11:g.17219138C>A
NG_008001.2:g.23051G>T
NM_001353229.2:c.997G>T
NM_001353230.2:c.943G>T
NM_001353231.2:c.943G>T
NM_144997.7:c.943G>TMANE SELECT
NP_001340158.1:p.Glu333Ter
NP_001340159.1:p.Glu315Ter
NP_001340160.1:p.Glu315Ter
NP_659434.2:p.Glu315Ter
LRG_325t1:c.943G>T
LRG_325:g.23051G>T
NC_000017.10:g.17122452C>A
NM_144997.5:c.943G>T
p.E315*

Protein change:

E315*

Links:

dbSNP: rs587781952

NCBI 1000 Genomes Browser:

rs587781952

Molecular consequence:

NM_001353229.2:c.997G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353230.2:c.943G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353231.2:c.943G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_144997.7:c.943G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

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
SCV000185172	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Pathogenic (Feb 14, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000185172

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Pathogenic
(Feb 14, 2014)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults.

Graham RB, Nolasco M, Peterlin B, Garcia CK.

Am J Respir Crit Care Med. 2005 Jul 1;172(1):39-44. Epub 2005 Apr 1.

PubMed [citation]

PMID:: 15805188

Details of each submission

From Ambry Genetics, SCV000185172.7

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

Description

The p.E315* pathogenic mutation (also known as c.943G>T) located in coding exon 6 of the FLCN gene, results from a G to T substitution at nucleotide position 943. This changes the amino acid from a glutamic acid to a stop codon within coding exon 6. This alteration was previously described in an isolated familial pneumothorax cohort (Graham RB et al. Am. J. Respir. Crit. Care Med. 2005; 172:39-44). In addition to the clinical data presented in the literature, sincepremature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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

Last Updated: May 16, 2025

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