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NM_017882.3(CLN6):c.357C>G (p.Ile119Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Dec 9, 2013
Accession:
VCV000205167.2
Variation ID:
205167
Description:
single nucleotide variant
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NM_017882.3(CLN6):c.357C>G (p.Ile119Met)

Allele ID
202878
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q23
Genomic location
15: 68211804 (GRCh38) GRCh38 UCSC
15: 68504142 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.68211804G>C
NC_000015.9:g.68504142G>C
NM_017882.3:c.357C>G MANE Select NP_060352.1:p.Ile119Met missense
... more HGVS
Protein change
I119M
Other names
p.I119M:ATC>ATG
Canonical SPDI
NC_000015.10:68211803:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA313964
dbSNP: rs141950483
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 9, 2013 RCV000187096.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CLN6 - - GRCh38
GRCh37
443 458

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 09, 2013)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000240671.10
Submitted: (Jan 29, 2019)
Evidence details
Comment:
p.Ile119Met (ATC>ATG): c.357 C>G in exon 4 of the CLN6 gene (NM_017882.2). The Ile119Met missense change in the CLN6 gene has not been published as … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs141950483...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Feb 27, 2021