rs9628306
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020461.4(TUBGCP6):c.3490G>T(p.Val1164Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V1164M) has been classified as Likely benign.
Frequency
Consequence
NM_020461.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TUBGCP6 | NM_020461.4 | c.3490G>T | p.Val1164Leu | missense_variant | 16/25 | ENST00000248846.10 | |
TUBGCP6 | XR_001755343.3 | n.4054G>T | non_coding_transcript_exon_variant | 16/20 | |||
TUBGCP6 | XR_938347.3 | n.4054G>T | non_coding_transcript_exon_variant | 16/23 | |||
TUBGCP6 | XR_007067982.1 | n.3049-854G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TUBGCP6 | ENST00000248846.10 | c.3490G>T | p.Val1164Leu | missense_variant | 16/25 | 1 | NM_020461.4 | P1 | |
TUBGCP6 | ENST00000439308.6 | c.3490G>T | p.Val1164Leu | missense_variant | 16/25 | 1 | |||
TUBGCP6 | ENST00000498611.5 | n.3617+406G>T | intron_variant, non_coding_transcript_variant | 1 | |||||
TUBGCP6 | ENST00000491449.5 | n.1797G>T | non_coding_transcript_exon_variant | 8/16 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD4 exome Cov.: 38
GnomAD4 genome ? Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at