NM_144997.7(FLCN):c.763C>T (p.His255Tyr) AND Multiple fibrofolliculomas

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

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000239703.1

Allele description [Variation Report for NM_144997.7(FLCN):c.763C>T (p.His255Tyr)]

NM_144997.7(FLCN):c.763C>T (p.His255Tyr)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.763C>T (p.His255Tyr)
HGVS:
  • NC_000017.11:g.17222517G>A
  • NG_008001.2:g.19672C>T
  • NM_001353229.2:c.817C>T
  • NM_001353230.2:c.763C>T
  • NM_001353231.2:c.763C>T
  • NM_144606.7:c.763C>T
  • NM_144997.7:c.763C>TMANE SELECT
  • NP_001340158.1:p.His273Tyr
  • NP_001340159.1:p.His255Tyr
  • NP_001340160.1:p.His255Tyr
  • NP_653207.1:p.His255Tyr
  • NP_659434.2:p.His255Tyr
  • LRG_325t1:c.763C>T
  • LRG_325:g.19672C>T
  • NC_000017.10:g.17125831G>A
  • NM_144997.5:c.763C>T
  • p.[His255Tyr]
Protein change:
H255Y
Links:
dbSNP: rs879255664
NCBI 1000 Genomes Browser:
rs879255664
Molecular consequence:
  • NM_001353229.2:c.817C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353230.2:c.763C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353231.2:c.763C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144606.7:c.763C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144997.7:c.763C>T - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000298058Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphiacriteria provided, single submitter
    Uncertain significance
    (Jul 18, 2016)
    germlineclinical testing

    DGD_Variant_Analysis_Guidelines.docx

    Description

    Clinical Testing

    SCV000298058

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineyes1not providednot providednot providednot providedclinical testing

    Details of each submission

    From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia, SCV000298058.1

    #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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