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NM_001909.5(CTSD):c.828-17G>A

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 13, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000258490.6
Variation ID:
258490
Description:
single nucleotide variant
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NM_001909.5(CTSD):c.828-17G>A

Allele ID
254079
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 1754155 (GRCh38) GRCh38 UCSC
11: 1775385 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.1754155C>T
NC_000011.9:g.1775385C>T
NG_008655.1:g.14838G>A
NM_001909.5:c.828-17G>A MANE Select
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:1754154:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.05232 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.05315
1000 Genomes Project 0.05232
The Genome Aggregation Database (gnomAD) 0.04971
Trans-Omics for Precision Medicine (TOPMed) 0.05376
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.05427
The Genome Aggregation Database (gnomAD), exomes 0.06365
Exome Aggregation Consortium (ExAC) 0.07866
Trans-Omics for Precision Medicine (TOPMed) 0.05403
Links
ClinGen: CA5814011
dbSNP: rs78735768
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Sep 21, 2016 RCV000625342.2
Benign 1 criteria provided, single submitter - RCV000253879.1
Benign 2 criteria provided, single submitter Mar 3, 2015 RCV000675951.4
Benign 1 criteria provided, single submitter Dec 3, 2020 RCV001517363.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CTSD - - GRCh38
GRCh37
380 413

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000308527.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Sep 21, 2015)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis 10
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000745009.1
Submitted: (Apr 09, 2018)
Evidence details
Benign
(Sep 21, 2016)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis 10
Allele origin: germline
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000745774.1
Submitted: (Apr 09, 2018)
Evidence details
Benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis
Allele origin: germline
Invitae
Accession: SCV001725843.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001859573.1
Submitted: (Sep 13, 2021)
Evidence details
Benign
(Dec 15, 2015)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories,Mayo Clinic
Accession: SCV000801680.1
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 rs78735768...

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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 Dec 02, 2021