NM_144997.7(FLCN):c.632_633delinsC (p.Glu211fs) AND Multiple fibrofolliculomas

Clinical significance:Pathogenic (Last evaluated: Jul 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000239710.2

Allele description [Variation Report for NM_144997.7(FLCN):c.632_633delinsC (p.Glu211fs)]

NM_144997.7(FLCN):c.632_633delinsC (p.Glu211fs)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.632_633delinsC (p.Glu211fs)
HGVS:
  • NC_000017.11:g.17222647_17222648delinsG
  • NG_008001.2:g.19541_19542delinsC
  • NM_001353229.2:c.686_687delinsC
  • NM_001353230.2:c.632_633delinsC
  • NM_001353231.2:c.632_633delinsC
  • NM_144606.7:c.632_633delinsC
  • NM_144997.7:c.632_633delinsCMANE SELECT
  • NP_001340158.1:p.Glu229fs
  • NP_001340159.1:p.Glu211fs
  • NP_001340160.1:p.Glu211fs
  • NP_653207.1:p.Glu211fs
  • NP_659434.2:p.Glu211fs
  • LRG_325t1:c.632_633delAGinsC
  • LRG_325:g.19541_19542delinsC
  • NC_000017.10:g.17125961_17125962delinsG
  • NM_144997.5:c.632_633delAGinsC
  • p.[Glu211Alafs*12]
Protein change:
E211fs
Links:
OMIM: 607273.0003; dbSNP: rs879255661
NCBI 1000 Genomes Browser:
rs879255661
Molecular consequence:
  • NM_001353229.2:c.686_687delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353230.2:c.632_633delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353231.2:c.632_633delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144606.7:c.632_633delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144997.7:c.632_633delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Multiple fibrofolliculomas (BHD)
Synonyms:
BHD syndrome; Fibrofolliculomas with trichodiscomas and acrochordons; Hornstein-Knickenberg syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007607; MedGen: C0346010; Orphanet: 122; OMIM: 135150

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000023690OMIMno assertion criteria providedPathogenic
(Sep 1, 2009)
germlineliterature only

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

SCV000298052Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphiacriteria provided, single submitter
    Pathogenic
    (Jul 18, 2016)
    germlineclinical testing

    DGD_Variant_Analysis_Guidelines.docx

    Description

    Clinical Testing

    SCV000298052

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
    not providedgermlineyes1not providednot providednot providednot providedclinical testing

    Citations

    PubMed

    The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.

    Wei MH, Blake PW, Shevchenko J, Toro JR.

    Hum Mutat. 2009 Sep;30(9):E880-90. doi: 10.1002/humu.21075.

    PubMed [citation]
    PMID:
    19562744
    PMCID:
    PMC3234166

    Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.

    Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, Duray P, Merino M, Choyke P, Pavlovich CP, Sharma N, Walther M, Munroe D, Hill R, Maher E, Greenberg C, Lerman MI, Linehan WM, Zbar B, Schmidt LS.

    Cancer Cell. 2002 Aug;2(2):157-64.

    PubMed [citation]
    PMID:
    12204536

    Details of each submission

    From OMIM, SCV000023690.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (2)

    Description

    Based on the numbering system used by Wei et al. (2009), the 1087DELAGINSC mutation has been renumbered as 632delAGinsC. In affected members of a family with Birt-Hogg-Dube syndrome (135150), Nickerson et al. (2002) found an insertion-deletion mutation in exon 7 of the FLCN gene, resulting in a frameshift with protein truncation.

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

    From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia, SCV000298052.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineyesnot providednot providednot provided1not providednot providednot provided

    Last Updated: Nov 27, 2021

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