NM_018294.6(CWF19L1):c.1150G>T (p.Glu384Ter) AND Spinocerebellar ataxia, autosomal recessive 17

Clinical significance:Likely pathogenic (Last evaluated: Jun 19, 2016)

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:
RCV000578457.1

Allele description [Variation Report for NM_018294.6(CWF19L1):c.1150G>T (p.Glu384Ter)]

NM_018294.6(CWF19L1):c.1150G>T (p.Glu384Ter)

Gene:
CWF19L1:CWF19 like cell cycle control factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q24.31
Genomic location:
Preferred name:
NM_018294.6(CWF19L1):c.1150G>T (p.Glu384Ter)
HGVS:
  • NC_000010.11:g.100238126C>A
  • NG_041811.1:g.34556G>T
  • NM_001303404.2:c.1150G>T
  • NM_001303405.2:c.739G>T
  • NM_001303406.2:c.739G>T
  • NM_001303407.2:c.415G>T
  • NM_018294.6:c.1150G>TMANE SELECT
  • NP_001290333.1:p.Glu384Ter
  • NP_001290334.1:p.Glu247Ter
  • NP_001290335.1:p.Glu247Ter
  • NP_001290336.1:p.Glu139Ter
  • NP_060764.3:p.Glu384Ter
  • NC_000010.10:g.101997883C>A
  • NM_018294.4:c.1150G>T
Protein change:
E139*
Links:
dbSNP: rs1554902760
NCBI 1000 Genomes Browser:
rs1554902760
Molecular consequence:
  • NM_001303404.2:c.1150G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001303405.2:c.739G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001303406.2:c.739G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001303407.2:c.415G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_018294.6:c.1150G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Spinocerebellar ataxia, autosomal recessive 17 (SCAR17)
Identifiers:
MONDO: MONDO:0014503; MedGen: C4015301; Orphanet: 453521; OMIM: 616127

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)
OriginMethodCitations
SCV000680119Molecular Genetics Laboratory,BC Children's and BC Women's Hospitalsno assertion criteria provided
Likely pathogenic
(Jun 19, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals, SCV000680119.1

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

Last Updated: Apr 17, 2020

Support Center