NM_144997.7(FLCN):c.1626C>T (p.Ser542=) AND not provided

Clinical significance:Likely benign (Last evaluated: Mar 11, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001546051.2

Allele description [Variation Report for NM_144997.7(FLCN):c.1626C>T (p.Ser542=)]

NM_144997.7(FLCN):c.1626C>T (p.Ser542=)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.1626C>T (p.Ser542=)
HGVS:
  • NC_000017.11:g.17213769G>A
  • NG_008001.2:g.28420C>T
  • NM_001353229.2:c.1680C>T
  • NM_001353230.2:c.1626C>T
  • NM_001353231.2:c.1626C>T
  • NM_144997.7:c.1626C>TMANE SELECT
  • NP_001340158.1:p.Ser560=
  • NP_001340159.1:p.Ser542=
  • NP_001340160.1:p.Ser542=
  • NP_659434.2:p.Ser542=
  • LRG_325t1:c.1626C>T
  • LRG_325:g.28420C>T
  • NC_000017.10:g.17117083G>A
  • NM_144997.5:c.1626C>T
Links:
dbSNP: rs1433647771
NCBI 1000 Genomes Browser:
rs1433647771
Molecular consequence:
  • NM_001353229.2:c.1680C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353230.2:c.1626C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353231.2:c.1626C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_144997.7:c.1626C>T - 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
SCV001765498GeneDxcriteria provided, single submitter
Likely benign
(Mar 11, 2019)
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, SCV001765498.1

#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: Sep 23, 2021

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