NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp) AND Charlevoix-Saguenay spastic ataxia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 16, 2017
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:: RCV000669953.1

Allele description [Variation Report for NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp)]

NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp)

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.13645A>G (p.Asn4549Asp)

HGVS:

NC_000013.11:g.23330231T>C
NG_012342.1:g.108472A>G
NM_001278055.2:c.13204A>G
NM_014363.6:c.13645A>GMANE SELECT
NP_001264984.1:p.Asn4402Asp
NP_055178.3:p.Asn4549Asp
NC_000013.10:g.23904370T>C
NM_014363.4:c.13645A>G

Protein change:

N4402D

Links:

dbSNP: rs1178912631

NCBI 1000 Genomes Browser:

rs1178912631

Molecular consequence:

NM_001278055.2:c.13204A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_014363.6:c.13645A>G - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000794756	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Oct 16, 2017)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 21507954, 22287014, 15156359 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000794756

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Oct 16, 2017)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Kozlov G, Denisov AY, Girard M, Dicaire MJ, Hamlin J, McPherson PS, Brais B, Gehring K.

J Biol Chem. 2011 Jun 10;286(23):20407-12. doi: 10.1074/jbc.M111.232884. Epub 2011 Apr 20.

PubMed [citation]

PMID:: 21507954
PMCID:: PMC3121481

Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.

Fogel BL, Lee JY, Lane J, Wahnich A, Chan S, Huang A, Osborn GE, Klein E, Mamah C, Perlman S, Geschwind DH, Coppola G.

Mov Disord. 2012 Mar;27(3):442-6. doi: 10.1002/mds.24064. Epub 2012 Jan 27.

PubMed [citation]

PMID:: 22287014
PMCID:: PMC3323119

See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000794756.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine