18-26227198-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005640.3(TAF4B):c.265C>T(p.Pro89Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000547 in 1,461,710 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005640.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TAF4B | ENST00000269142.10 | c.265C>T | p.Pro89Ser | missense_variant | Exon 1 of 15 | 1 | NM_005640.3 | ENSP00000269142.6 | ||
TAF4B | ENST00000578121.5 | c.265C>T | p.Pro89Ser | missense_variant | Exon 1 of 15 | 2 | ENSP00000462980.1 | |||
TAF4B | ENST00000418698.3 | n.265C>T | non_coding_transcript_exon_variant | Exon 1 of 16 | 5 | ENSP00000389365.3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461710Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727164
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.265C>T (p.P89S) alteration is located in exon 1 (coding exon 1) of the TAF4B gene. This alteration results from a C to T substitution at nucleotide position 265, causing the proline (P) at amino acid position 89 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at