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NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys) AND Autosomal recessive spinocerebellar ataxia 12

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 5, 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:
RCV002243897.2

Allele description [Variation Report for NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys)]

NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys)

Genes:
MAF:MAF bZIP transcription factor [Gene - OMIM - HGNC]
WWOX:WW domain containing oxidoreductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q23.2
Genomic location:
Preferred name:
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys)
HGVS:
  • NC_000016.10:g.79211692C>T
  • NG_011698.1:g.1117039C>T
  • NM_001291997.2:c.802C>T
  • NM_016373.4:c.1141C>TMANE SELECT
  • NP_001278926.1:p.Arg268Cys
  • NP_057457.1:p.Arg381Cys
  • NC_000016.9:g.79245589C>T
  • NM_016373.2:c.1141C>T
  • NM_016373.3:c.1141C>T
Protein change:
R268C
Links:
dbSNP: rs200461412
NCBI 1000 Genomes Browser:
rs200461412
Molecular consequence:
  • NM_001291997.2:c.802C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016373.4:c.1141C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive spinocerebellar ataxia 12
Synonyms:
SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
Identifiers:
MONDO: MONDO:0013687; MedGen: C3280452; Orphanet: 284282; OMIM: 614322

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002513938Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Dec 5, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV002513938.1

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

Last Updated: Oct 20, 2024