NM_017882.3(CLN6):c.890del (p.Pro297fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 14, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000058914.2

Allele description [Variation Report for NM_017882.3(CLN6):c.890del (p.Pro297fs)]

NM_017882.3(CLN6):c.890del (p.Pro297fs)

Gene:
CLN6:CLN6 transmembrane ER protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_017882.3(CLN6):c.890del (p.Pro297fs)
Other names:
Pro297LeufsX53
HGVS:
  • NC_000015.10:g.68208188del
  • NG_008764.2:g.54026del
  • NM_017882.3:c.890delMANE SELECT
  • NP_060352.1:p.Pro297fs
  • LRG_832t1:c.890del
  • LRG_832:g.54026del
  • LRG_832p1:p.Pro297fs
  • NC_000015.9:g.68500526del
  • NG_008764.1:g.26557delC
  • NM_017882.2:c.890del
  • NM_017882.2:c.890delC
Protein change:
P297fs
Links:
dbSNP: rs154774639
NCBI 1000 Genomes Browser:
rs154774639
Molecular consequence:
  • NM_017882.3:c.890del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000090435SNPediano assertion providednot providedgermlinenot provided

PubMed (1)
[See all records that cite this PMID]

SCV001430898Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Centercriteria provided, single submitter
Pathogenic
(Jul 14, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Description

Kufs Type A disease

SCV000090435

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF.

Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011.04.004. Epub 2011 May 5.

PubMed [citation]
PMID:
21549341
PMCID:
PMC3146726

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From SNPedia, SCV000090435.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

From Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center, SCV001430898.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

PVS1, PM2, PM3

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

Last Updated: Jul 29, 2021

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