NM_014363.6(SACS):c.6044A>C (p.Tyr2015Ser) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 16, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_014363.6(SACS):c.6044A>C (p.Tyr2015Ser)]

NM_014363.6(SACS):c.6044A>C (p.Tyr2015Ser)

SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_014363.6(SACS):c.6044A>C (p.Tyr2015Ser)
  • NC_000013.11:g.23337832T>G
  • NG_012342.1:g.100871A>C
  • NM_001278055.2:c.5603A>C
  • NM_014363.6:c.6044A>CMANE SELECT
  • NP_001264984.1:p.Tyr1868Ser
  • NP_055178.3:p.Tyr2015Ser
  • NC_000013.10:g.23911971T>G
  • NM_014363.4:c.6044A>C
Protein change:
dbSNP: rs1131691664
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001278055.2:c.5603A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.6044A>C - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000582593GeneDxcriteria provided, single submitter
Uncertain significance
(May 16, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000582593.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided


The Y2015S variant in the SACS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Y2015S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Y2015S variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret Y2015S as a variant of uncertain significance.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 27, 2021

Support Center