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NM_014363.6(SACS):c.382_383del (p.Glu128fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Dec 30, 2020)
Last evaluated:
Jul 2, 2020
Accession:
VCV000856558.2
Variation ID:
856558
Description:
2bp deletion
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NM_014363.6(SACS):c.382_383del (p.Glu128fs)

Allele ID
840616
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
13q12.12
Genomic location
13: 23365240-23365241 (GRCh38) GRCh38 UCSC
13: 23939379-23939380 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23939380_23939381del
NC_000013.11:g.23365241_23365242del
NM_014363.6:c.382_383del MANE Select NP_055178.3:p.Glu128fs frameshift
... more HGVS
Protein change
E128fs
Other names
-
Canonical SPDI
NC_000013.11:23365239:TCT:T
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 Feb 22, 2019 RCV001062044.1
Pathogenic 1 criteria provided, single submitter Jul 2, 2020 RCV001289169.1
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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
(Feb 22, 2019)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV001226814.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change creates a premature translational stop signal (p.Glu128Serfs*2) in the SACS gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Jul 02, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001476815.1
Submitted: (Dec 30, 2020)
Evidence details
Comment:
The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in … (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 Jan 30, 2021