22-50219182-G-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_020461.4(TUBGCP6):c.4512C>A(p.Val1504=) variant causes a synonymous 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. V1504V) has been classified as Benign.
Frequency
Consequence
NM_020461.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TUBGCP6 | NM_020461.4 | c.4512C>A | p.Val1504= | synonymous_variant | 20/25 | ENST00000248846.10 | |
TUBGCP6 | XR_001755343.3 | n.5135C>A | non_coding_transcript_exon_variant | 20/20 | |||
TUBGCP6 | XR_007067982.1 | n.3452C>A | non_coding_transcript_exon_variant | 19/19 | |||
TUBGCP6 | XR_938347.3 | n.5076C>A | non_coding_transcript_exon_variant | 20/23 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TUBGCP6 | ENST00000248846.10 | c.4512C>A | p.Val1504= | synonymous_variant | 20/25 | 1 | NM_020461.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD4 exome Cov.: 58
GnomAD4 genome ? Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at