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NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Feb 6, 2020)
Last evaluated:
Jun 28, 2019
Accession:
VCV000559017.2
Variation ID:
559017
Description:
single nucleotide variant
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NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr)

Allele ID
549725
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q23
Genomic location
15: 68211850 (GRCh38) GRCh38 UCSC
15: 68504188 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.68211850G>T
NC_000015.9:g.68504188G>T
NG_008764.2:g.50362C>A
... more HGVS
Protein change
S104Y
Other names
-
Canonical SPDI
NC_000015.10:68211849:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs777921628
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 Jun 28, 2019 RCV001247994.1
Uncertain significance 1 no assertion criteria provided Sep 6, 2017 RCV000675963.1
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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
(Jun 28, 2019)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis
Allele origin: germline
Invitae
Accession: SCV001421453.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces serine with tyrosine at codon 104 of the CLN6 protein (p.Ser104Tyr). The serine residue is highly conserved and there is a … (more)
Uncertain significance
(Sep 06, 2017)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000801692.1
Submitted: (May 23, 2018)
Evidence details

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 rs777921628...

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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 Oct 08, 2021