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NM_177987.2(TUBB8):c.713C>T (p.Thr238Met)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Mar 2, 2017)
Last evaluated:
Mar 2, 2017
Accession:
VCV000378059.1
Variation ID:
378059
Description:
single nucleotide variant
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NM_177987.2(TUBB8):c.713C>T (p.Thr238Met)

Allele ID
380148
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10p15.3
Genomic location
10: 47679 (GRCh38) GRCh38 UCSC
10: 93619 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.11:g.47679G>A
NC_000010.10:g.93619G>A
NM_177987.2:c.713C>T NP_817124.1:p.Thr238Met missense
NG_046777.1:g.33777C>T
Protein change
T238M
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 616768.0005
dbSNP: rs1057520306
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Mar 2, 2017 RCV000439790.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TUBB8 - - GRCh38
GRCh37
11 15

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 02, 2017)
no assertion criteria provided
Method: literature only
OOCYTE MATURATION DEFECT 2
Allele origin: germline
OMIM
Accession: SCV000513425.1
Submitted: (Mar 02, 2017)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos. Feng R Journal of medical genetics 2016 PMID: 27273344

Record last updated Mar 29, 2019