22-50219736-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_020461.4(TUBGCP6):c.4223C>A(p.Ala1408Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,442 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_020461.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TUBGCP6 | NM_020461.4 | c.4223C>A | p.Ala1408Glu | missense_variant | Exon 18 of 25 | ENST00000248846.10 | NP_065194.3 | |
TUBGCP6 | XR_001755343.3 | n.4846C>A | non_coding_transcript_exon_variant | Exon 18 of 20 | ||||
TUBGCP6 | XR_007067982.1 | n.3163C>A | non_coding_transcript_exon_variant | Exon 17 of 19 | ||||
TUBGCP6 | XR_938347.3 | n.4787C>A | non_coding_transcript_exon_variant | Exon 18 of 23 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461442Hom.: 0 Cov.: 76 AF XY: 0.00 AC XY: 0AN XY: 727054
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.