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NM_014363.6(SACS):c.11109del (p.Cys3704fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 30, 2020
Accession:
VCV001069976.1
Variation ID:
1069976
Description:
1bp deletion
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NM_014363.6(SACS):c.11109del (p.Cys3704fs)

Allele ID
1062808
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23332767 (GRCh38) GRCh38 UCSC
13: 23906906 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23906907del
NC_000013.11:g.23332768del
NM_014363.6:c.11109del MANE Select NP_055178.3:p.Cys3704fs frameshift
... more HGVS
Protein change
C3557fs, C3704fs
Other names
-
Canonical SPDI
NC_000013.11:23332766:GG:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Oct 30, 2020 RCV001381975.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SACS - - GRCh38
GRCh37
1808 1900

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 30, 2020)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV001580552.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change creates a premature translational stop signal (p.Cys3704Alafs*11) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, … (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.

Record last updated May 13, 2021