NM_014363.6(SACS):c.1152T>G (p.Thr384=) AND Charlevoix-Saguenay spastic ataxia

Clinical significance:Likely benign (Last evaluated: Aug 31, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001278835.1

Allele description [Variation Report for NM_014363.6(SACS):c.1152T>G (p.Thr384=)]

NM_014363.6(SACS):c.1152T>G (p.Thr384=)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.1152T>G (p.Thr384=)
HGVS:
  • NC_000013.11:g.23355460A>C
  • NG_012342.1:g.83243T>G
  • NM_001278055.2:c.711T>G
  • NM_014363.6:c.1152T>GMANE SELECT
  • NP_001264984.1:p.Thr237=
  • NP_055178.3:p.Thr384=
  • NC_000013.10:g.23929599A>C
  • NM_014363.5:c.1152T>G
Links:
dbSNP: rs185643322
NCBI 1000 Genomes Browser:
rs185643322
Molecular consequence:
  • NM_001278055.2:c.711T>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_014363.6:c.1152T>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Charlevoix-Saguenay spastic ataxia (SACS)
Synonyms:
Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Spastic ataxia of Charlevoix-Saguenay; SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE
Identifiers:
MONDO: MONDO:0010041; MedGen: C1849140; Orphanet: 98; OMIM: 270550

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001465877Natera, Inc.no assertion criteria providedLikely benign
(Aug 31, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001465877.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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