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NM_177987.3(TUBB8):c.1139G>A (p.Arg380His) AND Oocyte maturation defect 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 31, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001255459.1

Allele description [Variation Report for NM_177987.3(TUBB8):c.1139G>A (p.Arg380His)]

NM_177987.3(TUBB8):c.1139G>A (p.Arg380His)

Gene:
TUBB8:tubulin beta 8 class VIII [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p15.3
Genomic location:
Preferred name:
NM_177987.3(TUBB8):c.1139G>A (p.Arg380His)
HGVS:
  • NC_000010.11:g.47253C>T
  • NG_046777.1:g.34203G>A
  • NM_177987.3:c.1139G>AMANE SELECT
  • NP_817124.1:p.Arg380His
  • NC_000010.10:g.93193C>T
Protein change:
R380H
Links:
dbSNP: rs1554738022
NCBI 1000 Genomes Browser:
rs1554738022
Molecular consequence:
  • NM_177987.3:c.1139G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Oocyte maturation defect 2 (OZEMA2)
Synonyms:
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 2
Identifiers:
MONDO: MONDO:0021573; MedGen: C4225210; OMIM: 616780

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001431865Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University
no assertion criteria provided
Likely pathogenic
(Aug 31, 2020) 		unknowncase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedcase-control

Details of each submission

From Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, SCV001431865.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024