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NM_017882.3(CLN6):c.90C>T (p.Gly30=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 28, 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:
RCV000614069.1

Allele description [Variation Report for NM_017882.3(CLN6):c.90C>T (p.Gly30=)]

NM_017882.3(CLN6):c.90C>T (p.Gly30=)

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.90C>T (p.Gly30=)
HGVS:
  • NC_000015.10:g.68218644G>A
  • NG_008764.2:g.43568C>T
  • NM_017882.3:c.90C>TMANE SELECT
  • NP_060352.1:p.Gly30=
  • LRG_832t1:c.90C>T
  • LRG_832:g.43568C>T
  • LRG_832p1:p.Gly30=
  • NC_000015.9:g.68510982G>A
  • NM_017882.2:c.90C>T
Links:
dbSNP: rs1254460869
NCBI 1000 Genomes Browser:
rs1254460869
Molecular consequence:
  • NM_017882.3:c.90C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000714866GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Dec 28, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000714866.1

#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

Last Updated: Sep 29, 2024