NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys) AND Seizures

Clinical significance:Uncertain significance (Last evaluated: Aug 4, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000720262.1

Allele description [Variation Report for NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys)]

NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys)

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.425A>G (p.Tyr142Cys)
HGVS:
  • NC_000015.10:g.68211736T>C
  • NG_008764.2:g.50476A>G
  • NM_017882.3:c.425A>GMANE SELECT
  • NP_060352.1:p.Tyr142Cys
  • LRG_832t1:c.425A>G
  • LRG_832:g.50476A>G
  • LRG_832p1:p.Tyr142Cys
  • NC_000015.9:g.68504074T>C
  • NM_017882.2:c.425A>G
Protein change:
Y142C
Links:
dbSNP: rs1227254537
NCBI 1000 Genomes Browser:
rs1227254537
Molecular consequence:
  • NM_017882.3:c.425A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000851139Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Aug 4, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000851139.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.Y142C variant (also known as c.425A>G), located in coding exon 4 of the CLN6 gene, results from an A to G substitution at nucleotide position 425. The tyrosine at codon 142 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6498 samples (12996 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 6, 2021

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