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NM_144997.7(FLCN):c.933del (p.Val312fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 6, 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:
RCV003477240.1

Allele description [Variation Report for NM_144997.7(FLCN):c.933del (p.Val312fs)]

NM_144997.7(FLCN):c.933del (p.Val312fs)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.933del (p.Val312fs)
HGVS:
  • NC_000017.11:g.17219148del
  • NG_008001.2:g.23041del
  • NM_001353229.2:c.987del
  • NM_001353230.2:c.933del
  • NM_001353231.2:c.933del
  • NM_144997.6:c.933del
  • NM_144997.7:c.933delMANE SELECT
  • NP_001340158.1:p.Val330fs
  • NP_001340159.1:p.Val312fs
  • NP_001340160.1:p.Val312fs
  • NP_659434.2:p.Val312fs
  • LRG_325t1:c.933del
  • LRG_325:g.23041del
  • NC_000017.10:g.17122462del
  • NM_144997.5:c.933delT
  • p.P311fs
Protein change:
V312fs
Links:
dbSNP: rs886041041
NCBI 1000 Genomes Browser:
rs886041041
Molecular consequence:
  • NM_001353229.2:c.987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353230.2:c.933del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353231.2:c.933del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144997.7:c.933del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004219740Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Feb 6, 2023) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.

Liu Y, Xu Z, Feng R, Zhan Y, Wang J, Li G, Li X, Zhang W, Hu X, Tian X, Xu KF, Zhang X.

Orphanet J Rare Dis. 2017 May 30;12(1):104. doi: 10.1186/s13023-017-0656-7.

PubMed [citation]
PMID:
28558743
PMCID:
PMC5450333

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004219740.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This frameshift variant alters the translational reading frame of the FLCN mRNA and causes the premature termination of FLCN protein synthesis. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in an individual with Birt-Hogg-Dube (BHD) syndrome (PMID: 28558743 (2017)). Based on the available information, this variant is classified as pathogenic.

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

Last Updated: Jan 6, 2024