NM_144997.7(FLCN):c.584del (p.Gly195fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Feb 19, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000255719.3

Allele description [Variation Report for NM_144997.7(FLCN):c.584del (p.Gly195fs)]

NM_144997.7(FLCN):c.584del (p.Gly195fs)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.584del (p.Gly195fs)
HGVS:
  • NC_000017.11:g.17223959del
  • NG_008001.2:g.18233del
  • NM_001353229.2:c.638del
  • NM_001353230.2:c.584del
  • NM_001353231.2:c.584del
  • NM_144606.7:c.584del
  • NM_144997.7:c.584delMANE SELECT
  • NP_001340158.1:p.Gly213fs
  • NP_001340159.1:p.Gly195fs
  • NP_001340160.1:p.Gly195fs
  • NP_653207.1:p.Gly195fs
  • NP_659434.2:p.Gly195fs
  • LRG_325t1:c.584del
  • LRG_325:g.18233del
  • NC_000017.10:g.17127270del
  • NC_000017.10:g.17127273del
  • NM_144997.5:c.584del
  • NM_144997.5:c.584delG
  • p.[Gly195Glufs*28]
Protein change:
G195fs
Links:
dbSNP: rs878855217
NCBI 1000 Genomes Browser:
rs878855217
Molecular consequence:
  • NM_001353229.2:c.638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353230.2:c.584del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353231.2:c.584del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144606.7:c.584del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144997.7:c.584del - 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
SCV000321655GeneDxcriteria provided, single submitter
Pathogenic
(Feb 19, 2020)
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, SCV000321655.7

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); Also known as c.1036delG and c.1039delG; This variant is associated with the following publications: (PMID: 27734835, 29357828, 19562744, 19802896, 21937013, 15852235, 18234728)

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

Last Updated: Nov 27, 2021

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