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NM_014363.6(SACS):c.593A>G (p.Tyr198Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 25, 2019)
Last evaluated:
Sep 26, 2018
Accession:
VCV000448209.2
Variation ID:
448209
Description:
single nucleotide variant
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NM_014363.6(SACS):c.593A>G (p.Tyr198Cys)

Allele ID
441631
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23358346 (GRCh38) GRCh38 UCSC
13: 23932485 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23932485T>C
NC_000013.11:g.23358346T>C
NM_014363.6:c.593A>G MANE Select NP_055178.3:p.Tyr198Cys missense
... more HGVS
Protein change
Y198C, Y51C
Other names
-
Canonical SPDI
NC_000013.11:23358345:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA387551889
dbSNP: rs1461096954
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 Sep 26, 2018 RCV000516715.2
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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
1807 1899

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 26, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000614964.2
Submitted: (Sep 25, 2019)
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 rs1461096954...

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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 Jan 18, 2020