18-26265281-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_005640.3(TAF4B):c.455C>T(p.Ala152Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00196 in 1,613,804 control chromosomes in the GnomAD database, including 31 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_005640.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TAF4B | ENST00000269142.10 | c.455C>T | p.Ala152Val | missense_variant | Exon 2 of 15 | 1 | NM_005640.3 | ENSP00000269142.6 | ||
TAF4B | ENST00000578121.5 | c.455C>T | p.Ala152Val | missense_variant | Exon 2 of 15 | 2 | ENSP00000462980.1 | |||
TAF4B | ENST00000418698.3 | n.455C>T | non_coding_transcript_exon_variant | Exon 2 of 16 | 5 | ENSP00000389365.3 |
Frequencies
GnomAD3 genomes AF: 0.00961 AC: 1461AN: 152074Hom.: 12 Cov.: 32
GnomAD3 exomes AF: 0.00275 AC: 685AN: 249312Hom.: 9 AF XY: 0.00196 AC XY: 265AN XY: 135286
GnomAD4 exome AF: 0.00116 AC: 1694AN: 1461612Hom.: 19 Cov.: 31 AF XY: 0.00101 AC XY: 731AN XY: 727102
GnomAD4 genome AF: 0.00961 AC: 1462AN: 152192Hom.: 12 Cov.: 32 AF XY: 0.00915 AC XY: 681AN XY: 74406
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at