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NM_144997.7(FLCN):c.1286dup (p.His429fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 3, 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:
RCV002379071.2

Allele description [Variation Report for NM_144997.7(FLCN):c.1286dup (p.His429fs)]

NM_144997.7(FLCN):c.1286dup (p.His429fs)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.1286dup (p.His429fs)
HGVS:
  • NC_000017.11:g.17216394dup
  • NG_008001.2:g.25795dup
  • NM_001353229.2:c.1340dup
  • NM_001353230.2:c.1286dup
  • NM_001353231.2:c.1286dup
  • NM_144997.7:c.1286dupMANE SELECT
  • NP_001340158.1:p.His447fs
  • NP_001340159.1:p.His429fs
  • NP_001340160.1:p.His429fs
  • NP_659434.2:p.His429fs
  • LRG_325t1:c.1286dup
  • LRG_325:g.25795dup
  • NC_000017.10:g.17119707_17119708insT
  • NC_000017.10:g.17119708dup
  • NM_144997.5:c.1286dupA
  • p.[His429Glnfs*27]
Protein change:
H429fs
Links:
dbSNP: rs879255675
NCBI 1000 Genomes Browser:
rs879255675
Molecular consequence:
  • NM_001353229.2:c.1340dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353230.2:c.1286dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353231.2:c.1286dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144997.7:c.1286dup - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002690147Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jun 3, 2022) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke C, Turner M, Choyke P, Merino MJ, Pinto PA, Steinberg SM, Schmidt LS, Linehan WM.

J Med Genet. 2008 Jun;45(6):321-31. doi: 10.1136/jmg.2007.054304. Epub 2008 Jan 30. Review.

PubMed [citation]
PMID:
18234728
PMCID:
PMC2564862

Details of each submission

From Ambry Genetics, SCV002690147.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.1286dupA pathogenic mutation, located in coding exon 8 of the FLCN gene, results from a duplication of A at nucleotide position 1286, causing a translational frameshift with a predicted alternate stop codon (p.H429Qfs*27). This alteration has been observed in individuals with a personal and/or family history that is consistent with FLCN-related disease (Ambry internal data; Toro JR et al. J Med Genet, 2008 Jun;45:321-31). Of note, this alteration is referred to as c.1741insA in the published literature. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.

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

Last Updated: Sep 29, 2024