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NM_144997.7(FLCN):c.1635del (p.Asp545fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 3, 2023
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:
RCV003358347.2

Allele description [Variation Report for NM_144997.7(FLCN):c.1635del (p.Asp545fs)]

NM_144997.7(FLCN):c.1635del (p.Asp545fs)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.1635del (p.Asp545fs)
HGVS:
  • NC_000017.11:g.17213760del
  • NG_008001.2:g.28429del
  • NM_001353229.2:c.1689del
  • NM_001353230.2:c.1635del
  • NM_001353231.2:c.1635del
  • NM_144997.7:c.1635delMANE SELECT
  • NP_001340158.1:p.Asp563fs
  • NP_001340159.1:p.Asp545fs
  • NP_001340160.1:p.Asp545fs
  • NP_659434.2:p.Asp545Glufs
  • NP_659434.2:p.Asp545fs
  • LRG_325t1:c.1635del
  • LRG_325:g.28429del
  • LRG_325p1:p.Asp545Glufs
  • NC_000017.10:g.17117074del
  • NM_144997.5:c.1635delC
Protein change:
D545fs
Molecular consequence:
  • NM_001353229.2:c.1689del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353230.2:c.1635del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353231.2:c.1635del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144997.7:c.1635del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004053196Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 3, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004053196.2

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

Description

The c.1635delC pathogenic mutation, located in coding exon 11 of the FLCN gene, results from a deletion of one nucleotide at nucleotide position 1635, causing a translational frameshift with a predicted alternate stop codon (p.D545Efs*6). This alteration occurs at the 3' terminus of theFLCN gene, is not expected to trigger nonsense-mediated mRNA decay, and only impacts the last 5% of the protein. However, premature stop codons are typically deleterious in nature and the impacted region is critical for protein function (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 1, 2024