NM_017882.3(CLN6):c.255C>G (p.Phe85Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 12, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000187090.1

Allele description [Variation Report for NM_017882.3(CLN6):c.255C>G (p.Phe85Leu)]

NM_017882.3(CLN6):c.255C>G (p.Phe85Leu)

Gene:
CLN6:CLN6 transmembrane ER protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu)
Other names:
p.F85L:TTC>TTG
HGVS:
  • NC_000015.10:g.68214332G>C
  • NG_008764.2:g.47880C>G
  • NM_017882.3:c.255C>GMANE SELECT
  • NP_060352.1:p.Phe85Leu
  • LRG_832t1:c.255C>G
  • LRG_832:g.47880C>G
  • LRG_832p1:p.Phe85Leu
  • NC_000015.9:g.68506670G>C
  • NM_017882.2:c.255C>G
Protein change:
F85L
Links:
dbSNP: rs545955828
NCBI 1000 Genomes Browser:
rs545955828
Molecular consequence:
  • NM_017882.3:c.255C>G - 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
SCV000240665GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 12, 2014)
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, SCV000240665.11

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

Description

p.Phe85Leu (TTC>TTG): c.255 C>G in exon 3 of the CLN6 gene (NM_017882.2). The Phe85Leu variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations The Phe85Leu variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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

Last Updated: Oct 8, 2021

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