NM_144997.7(FLCN):c.592G>A (p.Asp198Asn) AND not provided

Clinical significance:Likely benign (Last evaluated: Oct 5, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV001579897.3

Allele description [Variation Report for NM_144997.7(FLCN):c.592G>A (p.Asp198Asn)]

NM_144997.7(FLCN):c.592G>A (p.Asp198Asn)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.592G>A (p.Asp198Asn)
HGVS:
  • NC_000017.11:g.17223948C>T
  • NG_008001.2:g.18241G>A
  • NM_001353229.2:c.646G>A
  • NM_001353230.2:c.592G>A
  • NM_001353231.2:c.592G>A
  • NM_144606.7:c.592G>A
  • NM_144997.7:c.592G>AMANE SELECT
  • NP_001340158.1:p.Asp216Asn
  • NP_001340159.1:p.Asp198Asn
  • NP_001340160.1:p.Asp198Asn
  • NP_653207.1:p.Asp198Asn
  • NP_659434.2:p.Asp198Asn
  • LRG_325t1:c.592G>A
  • LRG_325:g.18241G>A
  • NC_000017.10:g.17127262C>T
  • NM_144997.5:c.592G>A
Protein change:
D198N
Links:
dbSNP: rs200168437
NCBI 1000 Genomes Browser:
rs200168437
Molecular consequence:
  • NM_001353229.2:c.646G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353230.2:c.592G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353231.2:c.592G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144606.7:c.592G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144997.7:c.592G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000530066GeneDxcriteria provided, single submitter
Likely benign
(Oct 5, 2020)
germlineclinical testing

Citation Link,

SCV001808919Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

SCV001963214Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000530066.5

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

Description

This variant is associated with the following publications: (PMID: 24728327)

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

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001808919.1

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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001963214.1

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

Last Updated: Nov 27, 2021

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