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NM_018941.4(CLN8):c.789G>C (p.Trp263Cys) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001090293.22

Allele description [Variation Report for NM_018941.4(CLN8):c.789G>C (p.Trp263Cys)]

NM_018941.4(CLN8):c.789G>C (p.Trp263Cys)

Gene:
CLN8:CLN8 transmembrane ER and ERGIC protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p23.3
Genomic location:
Preferred name:
NM_018941.4(CLN8):c.789G>C (p.Trp263Cys)
HGVS:
  • NC_000008.11:g.1780495G>C
  • NG_008656.2:g.29718G>C
  • NM_018941.4:c.789G>CMANE SELECT
  • NP_061764.2:p.Trp263Cys
  • LRG_691:g.29718G>C
  • NC_000008.10:g.1728661G>C
  • Q9UBY8:p.Trp263Cys
Protein change:
W263C; TRP263CYS
Links:
UniProtKB: Q9UBY8#VAR_026557; OMIM: 607837.0002; dbSNP: rs28940569
NCBI 1000 Genomes Browser:
rs28940569
Molecular consequence:
  • NM_018941.4:c.789G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001245744CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Feb 1, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001245744.26

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024