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NM_016023.5(OTUD6B):c.557A>G (p.Tyr186Cys) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 9, 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:
RCV000490986.2

Allele description [Variation Report for NM_016023.5(OTUD6B):c.557A>G (p.Tyr186Cys)]

NM_016023.5(OTUD6B):c.557A>G (p.Tyr186Cys)

Gene:
OTUD6B:OTU deubiquitinase 6B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q21.3
Genomic location:
Preferred name:
NM_016023.5(OTUD6B):c.557A>G (p.Tyr186Cys)
Other names:
Y216C
HGVS:
  • NC_000008.11:g.91078597A>G
  • NM_001286745.3:c.254A>G
  • NM_016023.5:c.557A>GMANE SELECT
  • NP_001273674.1:p.Tyr85Cys
  • NP_057107.4:p.Tyr186Cys
  • NC_000008.10:g.92090825A>G
  • NM_016023.3:c.647A>G
Protein change:
Y186C; TYR216CYS
Links:
OMIM: 612021.0004; dbSNP: rs1064797103
NCBI 1000 Genomes Browser:
rs1064797103
Molecular consequence:
  • NM_001286745.3:c.254A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016023.5:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epilepsy
Synonyms:
Seizure Disorders; Seizure disorder
Identifiers:
MONDO: MONDO:0005027; MeSH: D004827; MedGen: C0014544
Name:
Dysmorphic features
Identifiers:
MedGen: C0432072
Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000492517Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 9, 2017) 		inheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes31not providednot providednot 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 Baylor Genetics, SCV000492517.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedresearch PubMed (1)

Description

This missense variant was found in one family, homozygous in 3 affected siblings: 20yo male with moderate intellectual disability, epilepsy, dysmorphic features, arachnodactyly; 16yo male with mild intellectual disability, epilepsy, dysmorphic features, hyperextensibility; 14yo female with moderate intellectual disability, epilepsy, dysmorphic features, arachnodactyly, hyperexensibility.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided3not provided1not provided

Last Updated: Sep 30, 2023