rs60311681
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_005640.3(TAF4B):c.147T>C(p.Pro49Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00126 in 1,606,964 control chromosomes in the GnomAD database, including 24 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_005640.3 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TAF4B | ENST00000269142.10 | c.147T>C | p.Pro49Pro | synonymous_variant | Exon 1 of 15 | 1 | NM_005640.3 | ENSP00000269142.6 | ||
TAF4B | ENST00000578121.5 | c.147T>C | p.Pro49Pro | synonymous_variant | Exon 1 of 15 | 2 | ENSP00000462980.1 | |||
TAF4B | ENST00000418698.3 | n.147T>C | non_coding_transcript_exon_variant | Exon 1 of 16 | 5 | ENSP00000389365.3 |
Frequencies
GnomAD3 genomes AF: 0.00661 AC: 1006AN: 152114Hom.: 12 Cov.: 32
GnomAD3 exomes AF: 0.00162 AC: 378AN: 233428Hom.: 4 AF XY: 0.00113 AC XY: 145AN XY: 128206
GnomAD4 exome AF: 0.000702 AC: 1021AN: 1454734Hom.: 12 Cov.: 31 AF XY: 0.000620 AC XY: 449AN XY: 723922
GnomAD4 genome AF: 0.00663 AC: 1010AN: 152230Hom.: 12 Cov.: 32 AF XY: 0.00599 AC XY: 446AN XY: 74432
ClinVar
Submissions by phenotype
not provided Benign:2
- -
- -
TAF4B-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at