NM_017882.3(CLN6):c.822G>A (p.Ala274=) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Dec 20, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000124344.3

Allele description [Variation Report for NM_017882.3(CLN6):c.822G>A (p.Ala274=)]

NM_017882.3(CLN6):c.822G>A (p.Ala274=)

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.822G>A (p.Ala274=)
Other names:
p.A274A:GCG>GCA
HGVS:
  • NC_000015.10:g.68208254C>T
  • NG_008764.2:g.53958G>A
  • NM_017882.3:c.822G>AMANE SELECT
  • NP_060352.1:p.Ala274=
  • LRG_832t1:c.822G>A
  • LRG_832:g.53958G>A
  • LRG_832p1:p.Ala274=
  • NC_000015.9:g.68500592C>T
  • NM_017882.2:c.822G>A
  • p.Ala274Ala
Links:
dbSNP: rs151186473
NCBI 1000 Genomes Browser:
rs151186473
Molecular consequence:
  • NM_017882.3:c.822G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000167773GeneDxcriteria provided, single submitter
Benign
(Oct 22, 2013)
germlineclinical testing

Citation Link,

SCV000612848Athena Diagnostics Inccriteria provided, single submitter
Likely benign
(Dec 20, 2016)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA.

Tammen I, Houweling PJ, Frugier T, Mitchell NL, Kay GW, Cavanagh JA, Cook RW, Raadsma HW, Palmer DN.

Biochim Biophys Acta. 2006 Oct;1762(10):898-905. Epub 2006 Sep 12.

PubMed [citation]
PMID:
17046213

A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3.

Frugier T, Mitchell NL, Tammen I, Houweling PJ, Arthur DG, Kay GW, van Diggelen OP, Jolly RD, Palmer DN.

Neurobiol Dis. 2008 Feb;29(2):306-15. Epub 2007 Sep 29.

PubMed [citation]
PMID:
17988881
PMCID:
PMC2249613
See all PubMed Citations (3)

Details of each submission

From GeneDx, SCV000167773.12

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Athena Diagnostics Inc, SCV000612848.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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