Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_014363.6(SACS):c.8269G>A (p.Gly2757Arg)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Apr 6, 2017
Accession:
VCV000426709.2
Variation ID:
426709
Description:
single nucleotide variant
Help

NM_014363.6(SACS):c.8269G>A (p.Gly2757Arg)

Allele ID
415373
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23335607 (GRCh38) GRCh38 UCSC
13: 23909746 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23909746C>T
NC_000013.11:g.23335607C>T
NM_014363.6:c.8269G>A MANE Select NP_055178.3:p.Gly2757Arg missense
... more HGVS
Protein change
G2757R, G2610R
Other names
-
Canonical SPDI
NC_000013.11:23335606:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA387517004
dbSNP: rs1085307756
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 6, 2017 RCV000489599.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SACS - - GRCh38
GRCh37
1807 1899

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 06, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000577230.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The G2757R variant in the SACS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The … (more)

Functional evidence

Help
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

Help
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 rs1085307756...

Help
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