NM_144997.7(FLCN):c.75G>A (p.Leu25=) AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Jun 11, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000756172.7

Allele description [Variation Report for NM_144997.7(FLCN):c.75G>A (p.Leu25=)]

NM_144997.7(FLCN):c.75G>A (p.Leu25=)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.75G>A (p.Leu25=)
HGVS:
  • NC_000017.11:g.17228063C>T
  • NG_008001.2:g.14126G>A
  • NM_001353229.2:c.75G>A
  • NM_001353230.2:c.75G>A
  • NM_001353231.2:c.75G>A
  • NM_144606.7:c.75G>A
  • NM_144997.7:c.75G>AMANE SELECT
  • NP_001340158.1:p.Leu25=
  • NP_001340159.1:p.Leu25=
  • NP_001340160.1:p.Leu25=
  • NP_653207.1:p.Leu25=
  • NP_659434.2:p.Leu25=
  • LRG_325t1:c.75G>A
  • LRG_325:g.14126G>A
  • NC_000017.10:g.17131377C>T
  • NM_144997.5:c.75G>A
  • p.Leu25Leu
Links:
dbSNP: rs200350612
NCBI 1000 Genomes Browser:
rs200350612
Molecular consequence:
  • NM_001353229.2:c.75G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353230.2:c.75G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353231.2:c.75G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_144606.7:c.75G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_144997.7:c.75G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000883898ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Benign
(Sep 6, 2017)
germlineclinical testing

Citation Link,

SCV001802849GeneDxcriteria provided, single submitter
Likely benign
(Jun 11, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000883898.1

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

From GeneDx, SCV001802849.1

#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 11, 2021

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