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NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) AND Cerebral palsy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 10, 2021
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:
RCV001795311.2

Allele description [Variation Report for NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs)]

NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs)

Gene:
SETX:senataxin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs)
HGVS:
  • NC_000009.12:g.132297011_132297020del
  • NG_007946.1:g.62971_62980del
  • NM_001351527.2:c.5821_5830del
  • NM_001351528.2:c.5821_5830del
  • NM_015046.7:c.5821_5830delMANE SELECT
  • NP_001338456.1:p.Ala1941fs
  • NP_001338457.1:p.Ala1941fs
  • NP_055861.3:p.Ala1941fs
  • LRG_268:g.62971_62980del
  • NC_000009.11:g.135172398_135172407del
Protein change:
A1941fs
Links:
dbSNP: rs797045067
NCBI 1000 Genomes Browser:
rs797045067
Molecular consequence:
  • NM_001351527.2:c.5821_5830del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351528.2:c.5821_5830del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015046.7:c.5821_5830del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cerebral palsy
Identifiers:
MONDO: MONDO:0006497; MedGen: C0007789; Human Phenotype Ontology: HP:0100021

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001737588Neurogenetics Research Program, University of Adelaide
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 10, 2021) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch

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 Neurogenetics Research Program, University of Adelaide, SCV001737588.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Aug 5, 2023