NM_144997.7(FLCN):c.1538+14T>G AND not specified

Clinical significance:Benign (Last evaluated: Mar 6, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000153244.5

Allele description [Variation Report for NM_144997.7(FLCN):c.1538+14T>G]

NM_144997.7(FLCN):c.1538+14T>G

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.1538+14T>G
HGVS:
  • NC_000017.11:g.17214971A>C
  • NG_008001.2:g.27218T>G
  • NM_001353229.2:c.1592+14T>G
  • NM_001353230.2:c.1538+14T>G
  • NM_001353231.2:c.1538+14T>G
  • NM_144997.7:c.1538+14T>GMANE SELECT
  • LRG_325t1:c.1538+14T>G
  • LRG_325:g.27218T>G
  • NC_000017.10:g.17118285A>C
  • NM_144997.5:c.1538+14T>G
Links:
dbSNP: rs112111994
NCBI 1000 Genomes Browser:
rs112111994
Molecular consequence:
  • NM_001353229.2:c.1592+14T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353230.2:c.1538+14T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353231.2:c.1538+14T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_144997.7:c.1538+14T>G - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000202718EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Mar 6, 2014)
germlineclinical testing

Citation Link,

SCV001808542Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensusno assertion criteria providedBenigngermlineclinical testing

SCV001966637Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000202718.7

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

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001808542.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001966637.1

#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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