NM_005861.4(STUB1):c.441G>T (p.Trp147Cys) AND Autosomal recessive spinocerebellar ataxia 16

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2013
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000115000.4

Allele description [Variation Report for NM_005861.4(STUB1):c.441G>T (p.Trp147Cys)]

NM_005861.4(STUB1):c.441G>T (p.Trp147Cys)

Gene:

STUB1:STIP1 homology and U-box containing protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_005861.4(STUB1):c.441G>T (p.Trp147Cys)

HGVS:

NC_000016.10:g.681520G>T
NG_034141.1:g.6410G>T
NM_001293197.2:c.225G>T
NM_005861.4:c.441G>TMANE SELECT
NP_001280126.1:p.Trp75Cys
NP_005852.2:p.Trp147Cys
NC_000016.9:g.731520G>T
Q9UNE7:p.Trp147Cys

Protein change:

W147C; TRP147CYS

Links:

UniProtKB: Q9UNE7#VAR_071297; OMIM: 607207.0003; dbSNP: rs587777342

NCBI 1000 Genomes Browser:

rs587777342

Molecular consequence:

NM_001293197.2:c.225G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_005861.4:c.441G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive spinocerebellar ataxia 16
Identifiers:: MONDO: MONDO:0014339; MedGen: C5190574; Orphanet: 412057; OMIM: 615768

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GLAREA_02751 [Glarea lozoyensis ATCC 20868]
GLAREA_02751 [Glarea lozoyensis ATCC 20868]
Gene ID:19461807

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000148909	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2013)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000148909

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2013)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.

Shi Y, Wang J, Li JD, Ren H, Guan W, He M, Yan W, Zhou Y, Hu Z, Zhang J, Xiao J, Su Z, Dai M, Wang J, Jiang H, Guo J, Zhou Y, Zhang F, Li N, Du J, Xu Q, Hu Y, et al.

PLoS One. 2013;8(12):e81884. doi: 10.1371/journal.pone.0081884.

PubMed [citation]

PMID:: 24312598
PMCID:: PMC3846781

Details of each submission

From OMIM, SCV000148909.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the trp147-to-cys (W147C) mutation in the STUB1 gene that was found in compound heterozygous state in a patient with autosomal recessive spinocerebellar ataxia-16 (SCAR16; 615768) by Shi et al. (2013), see 607207.0002.

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

Last Updated: Nov 19, 2022

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