10-47188-C-CAG
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PVS1_StrongPM2PP5
The NM_177987.3(TUBB8):c.1203_1204insCT(p.Gly402LeufsTer15) variant causes a frameshift change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Genomes: not found (cov: 26)
Consequence
TUBB8
NM_177987.3 frameshift
NM_177987.3 frameshift
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 5.57
Genes affected
TUBB8 (HGNC:20773): (tubulin beta 8 class VIII) The protein encoded by this gene represents the primary beta-tubulin subunit of oocytes and the early embryo. Defects in this gene, which is primate-specific, are a cause of oocyte maturation defect 2 and infertility. [provided by RefSeq, Mar 2016]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
PVS1
?
Loss of function variant, product does not undergo nonsense mediated mRNA decay. Variant is located in the 3'-most exon, not predicted to undergo nonsense mediated mRNA decay. There are 9 pathogenic variants in the truncated region.
PM2
?
Very rare variant in population databases, with high coverage;
PP5
?
Variant 10-47188-C-CAG is Pathogenic according to our data. Variant chr10-47188-C-CAG is described in ClinVar as [Pathogenic]. Clinvar id is 977667.Status of the report is no_assertion_criteria_provided, 0 stars.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TUBB8 | NM_177987.3 | c.1203_1204insCT | p.Gly402LeufsTer15 | frameshift_variant | 4/4 | ENST00000568584.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TUBB8 | ENST00000568584.6 | c.1203_1204insCT | p.Gly402LeufsTer15 | frameshift_variant | 4/4 | 1 | NM_177987.3 | P1 | |
TUBB8 | ENST00000564130.2 | c.1101_1102insCT | p.Gly368LeufsTer15 | frameshift_variant | 4/4 | 5 | |||
TUBB8 | ENST00000568866.5 | c.1092_1093insCT | p.Gly365LeufsTer15 | frameshift_variant | 3/3 | 5 | |||
TUBB8 | ENST00000561967.1 | c.*866_*867insCT | 3_prime_UTR_variant | 4/4 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 26
GnomAD3 genomes
?
Cov.:
26
GnomAD4 exome Cov.: 30
GnomAD4 exome
Cov.:
30
GnomAD4 genome ? Cov.: 26
GnomAD4 genome
?
Cov.:
26
ClinVar
Significance: Pathogenic
Submissions summary: Pathogenic:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
Oocyte maturation defect 2 Pathogenic:1
Pathogenic, no assertion criteria provided | case-control | Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University | Aug 31, 2020 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at