NM_144997.7(FLCN):c.1286dup (p.His429fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 18, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000413427.2

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.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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000490529GeneDxcriteria provided, single submitter
Pathogenic
(Jul 18, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000490529.2

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

Description

The c.1286dupA variant in the FLCN gene has been reported previously in association with Birt-Hogg-Dube syndrome (Toro et al., 2008; Maffe et al., 2011). The duplication causes a frameshift starting with codon Histidine 429, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 27 of the new reading frame, denoted p.His429GlufsX27. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider c.1286dupA to be pathogenic, and its presence consistent with a diagnosis of Birt-Hogg-Dube syndrome.

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

Last Updated: Nov 27, 2021

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