NM_017882.3(CLN6):c.357C>G (p.Ile119Met) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Dec 9, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000187096.1

Allele description [Variation Report for NM_017882.3(CLN6):c.357C>G (p.Ile119Met)]

NM_017882.3(CLN6):c.357C>G (p.Ile119Met)

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.357C>G (p.Ile119Met)
Other names:
p.I119M:ATC>ATG
HGVS:
  • NC_000015.10:g.68211804G>C
  • NG_008764.2:g.50408C>G
  • NM_017882.3:c.357C>GMANE SELECT
  • NP_060352.1:p.Ile119Met
  • LRG_832t1:c.357C>G
  • LRG_832:g.50408C>G
  • LRG_832p1:p.Ile119Met
  • NC_000015.9:g.68504142G>C
  • NM_017882.2:c.357C>G
Protein change:
I119M
Links:
dbSNP: rs141950483
NCBI 1000 Genomes Browser:
rs141950483
Molecular consequence:
  • NM_017882.3:c.357C>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
SCV000240671GeneDxcriteria provided, single submitter
Uncertain significance
(Dec 9, 2013)
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, SCV000240671.10

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

Description

p.Ile119Met (ATC>ATG): c.357 C>G in exon 4 of the CLN6 gene (NM_017882.2). The Ile119Met missense change in the CLN6 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. This variant is a conservative substitution of one uncharged, non-polar amino acid for another at a position that is not conserved across species. In silico analysis predicts this variant is likely benign. However, other missense mutations associated with neuronal ceroid lipofuscinosis have been reported in this region of the protein. Therefore, based on the currently available information, it is unclear whether Ile119Met is a disease-causing mutation or a rare benign variant. The variant is found in CHILD-EPI panel(s).

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

Last Updated: Feb 27, 2021

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