1-229594705-G-A
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Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_014409.4(TAF5L):c.1362C>T(p.Ser454Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.432 in 1,613,918 control chromosomes in the GnomAD database, including 156,422 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.36 ( 11204 hom., cov: 32)
Exomes 𝑓: 0.44 ( 145218 hom. )
Consequence
TAF5L
NM_014409.4 synonymous
NM_014409.4 synonymous
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.139
Genes affected
TAF5L (HGNC:17304): (TATA-box binding protein associated factor 5 like) The product of this gene belongs to the WD-repeat TAF5 family of proteins. This gene encodes a protein that is a component of the PCAF histone acetylase complex. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors to facilitate complex assembly and transcription initiation. The encoded protein is structurally similar to one of the histone-like TAFs, TAF5. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -13 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.57).
BP7
Synonymous conserved (PhyloP=0.139 with no splicing effect.
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.468 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TAF5L | NM_014409.4 | c.1362C>T | p.Ser454Ser | synonymous_variant | 5/5 | ENST00000258281.7 | NP_055224.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TAF5L | ENST00000258281.7 | c.1362C>T | p.Ser454Ser | synonymous_variant | 5/5 | 5 | NM_014409.4 | ENSP00000258281.2 |
Frequencies
GnomAD3 genomes AF: 0.356 AC: 54156AN: 151944Hom.: 11203 Cov.: 32
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GnomAD3 exomes AF: 0.397 AC: 99747AN: 251242Hom.: 21308 AF XY: 0.408 AC XY: 55402AN XY: 135842
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GnomAD4 exome AF: 0.440 AC: 643821AN: 1461856Hom.: 145218 Cov.: 94 AF XY: 0.442 AC XY: 321583AN XY: 727226
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GnomAD4 genome AF: 0.356 AC: 54174AN: 152062Hom.: 11204 Cov.: 32 AF XY: 0.358 AC XY: 26598AN XY: 74320
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Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
RBP_binding_hub_radar
RBP_regulation_power_radar
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at