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NM_014363.6(SACS):c.7110C>G (p.Tyr2370Ter) AND Charlevoix-Saguenay spastic ataxia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 20, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001784933.4

Allele description [Variation Report for NM_014363.6(SACS):c.7110C>G (p.Tyr2370Ter)]

NM_014363.6(SACS):c.7110C>G (p.Tyr2370Ter)

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.7110C>G (p.Tyr2370Ter)
HGVS:
  • NC_000013.11:g.23336766G>C
  • NG_012342.1:g.101937C>G
  • NM_001278055.2:c.6669C>G
  • NM_014363.6:c.7110C>GMANE SELECT
  • NP_001264984.1:p.Tyr2223Ter
  • NP_055178.3:p.Tyr2370Ter
  • NC_000013.10:g.23910905G>C
  • NM_014363.5:c.7110C>G
Protein change:
Y2223*
Links:
dbSNP: rs1555251553
NCBI 1000 Genomes Browser:
rs1555251553
Molecular consequence:
  • NM_001278055.2:c.6669C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014363.6:c.7110C>G - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002019981Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Nov 20, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Revvity Omics, Revvity, SCV002019981.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2024