Click here to see the new Variation Report design!

NM_177987.2(TUBB8):c.785G>A (p.Arg262Gln)

Variation ID: Help
223144
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jan 21, 2016
Number of submission(s):
1
Condition(s):
Oocyte maturation defect 2[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_177987.2(TUBB8):c.785G>A (p.Arg262Gln)

Allele ID:
224871
Variant type:
single nucleotide variant
Cytogenetic location:
10p15.3
Genomic location:
  • Chr10: 47607 (on Assembly GRCh38)
  • Chr10: 93547 (on Assembly GRCh37)
Protein change:
R262Q
HGVS:
  • NG_046777.1:g.33849G>A
  • NM_177987.2:c.785G>A
  • NP_817124.1:p.Arg262Gln
  • NC_000010.11:g.47607C>T (GRCh38)
  • NC_000010.10:g.93547C>T (GRCh37)
  • Q3ZCM7:p.Arg262Gln
Links:
NCBI 1000 Genomes Browser:
rs869025610
Molecular consequence:
NM_177987.2:c.785G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
Trans-Omics for Precision Medicine (TOPMed) 0.00001

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Jan 21, 2016)
criteria provided, single submitter
literature onlygermlineSNPediaSCV000264650.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
SNPedianot providednot providedgermlinenot providednot providedInfertility, femaleā€¦Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

Support Center