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NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) AND not specified

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Apr 11, 2024
Review status:
no classifications from unflagged records
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:
RCV000187114.10

Allele description [Variation Report for NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)]

NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)

Gene:
CLN6:CLN6 transmembrane ER protein [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)
HGVS:
  • NC_000015.10:g.68208282GAG[1]
  • NC_000015.9:g.68500618_68500620del
  • NG_008764.2:g.53927CCT[1]
  • NM_017882.3:c.791CCT[1]MANE SELECT
  • NP_060352.1:p.Ser265del
  • LRG_832t1:c.791CCT[1]
  • LRG_832:g.53927CCT[1]
  • LRG_832p1:p.Ser265del
  • NC_000015.9:g.68500618_68500620del
  • NC_000015.9:g.68500618_68500620delAGG
  • NC_000015.9:g.68500620GAG[1]
  • NM_017882.2:c.794_796delCCT
  • NM_017882.3:c.794_796delMANE SELECT
  • p.S265del
  • p.Ser265del
Protein change:
S265del
Links:
dbSNP: rs768422260
NCBI 1000 Genomes Browser:
rs768422260
Molecular consequence:
  • NM_017882.3:c.791CCT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
Functional consequence:
probably has functional consequence

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000240689.3

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

Description

c.794_796delCCT: p.Ser265del (S265del) in exon 7 of the CLN6 gene (NM_017882.2) The normal sequence with the bases that are deleted in braces is: TCCT{CCT}TCGC. The c.794_796delCCT variant has been reported previously in an individual with late-infantile neuronal ceroid lipofuscinosis (Sharp et al., 2003). The c.794_796delCCT variant results in an in-frame deletion of a single Serine residue at a conserved position in the seventh transmembrane domain of the CLN6 protein (Kousi et al., 2012). However, this deletion is not expected to result in protein truncation or nonsense-mediated mRNA decay. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in PME-EPI,CHILD-EPI panel(s).

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000240689GeneDx
flagged submission
Reason: Older claim that does not account for recent evidence
Notes: None

(GeneDx Variant Classification (06012015))		Uncertain significance
(Nov 18, 2014) 		germlineclinical testing

Citation Link

Last Updated: Oct 13, 2024