rs145621219
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 1P and 16B. PP3BP4_StrongBP6_Very_StrongBS2
The NM_018943.3(TUBA8):c.748G>A(p.Val250Met) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00204 in 1,614,128 control chromosomes in the GnomAD database, including 25 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_018943.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TUBA8 | ENST00000330423.8 | c.748G>A | p.Val250Met | missense_variant | Exon 4 of 5 | 1 | NM_018943.3 | ENSP00000333326.3 | ||
ENSG00000288683 | ENST00000474897.6 | n.*638G>A | non_coding_transcript_exon_variant | Exon 8 of 9 | 5 | ENSP00000434235.2 | ||||
ENSG00000288683 | ENST00000474897.6 | n.*638G>A | 3_prime_UTR_variant | Exon 8 of 9 | 5 | ENSP00000434235.2 |
Frequencies
GnomAD3 genomes AF: 0.00295 AC: 448AN: 152116Hom.: 1 Cov.: 31
GnomAD3 exomes AF: 0.00345 AC: 868AN: 251486Hom.: 9 AF XY: 0.00318 AC XY: 432AN XY: 135922
GnomAD4 exome AF: 0.00194 AC: 2838AN: 1461894Hom.: 24 Cov.: 31 AF XY: 0.00197 AC XY: 1434AN XY: 727248
GnomAD4 genome AF: 0.00294 AC: 448AN: 152234Hom.: 1 Cov.: 31 AF XY: 0.00382 AC XY: 284AN XY: 74420
ClinVar
Submissions by phenotype
not specified Benign:1
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TUBA8-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at