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NM_016373.4(WWOX):c.107+1G>A AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 31, 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:
RCV000850618.1

Allele description [Variation Report for NM_016373.4(WWOX):c.107+1G>A]

NM_016373.4(WWOX):c.107+1G>A

Gene:
WWOX:WW domain containing oxidoreductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q23.1
Genomic location:
Preferred name:
NM_016373.4(WWOX):c.107+1G>A
HGVS:
  • NC_000016.10:g.78099886G>A
  • NG_011698.1:g.5233G>A
  • NG_134376.1:g.99G>A
  • NM_001291997.2:c.-168+1G>A
  • NM_016373.4:c.107+1G>AMANE SELECT
  • NM_130791.5:c.107+1G>A
  • NC_000016.9:g.78133783G>A
  • NR_120435.2:n.233G>A
  • NR_120436.3:n.233G>A
Links:
dbSNP: rs1300924648
NCBI 1000 Genomes Browser:
rs1300924648
Molecular consequence:
  • NR_120435.2:n.233G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_120436.3:n.233G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001291997.2:c.-168+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_016373.4:c.107+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130791.5:c.107+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

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
Name:
Developmental and epileptic encephalopathy, 28 (DEE28)
Synonyms:
Epileptic encephalopathy, early infantile, 28
Identifiers:
MONDO: MONDO:0014533; MedGen: C4015519; Orphanet: 442835; OMIM: 616211

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000992851Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 31, 2017) 		germlineclinical testing

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

Help

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 Baylor Genetics, SCV000992851.1

#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: Nov 3, 2024