NM_005640.3:c.585T>G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_005640.3(TAF4B):āc.585T>Gā(p.Pro195Pro) variant causes a synonymous change. The variant allele was found at a frequency of 0.000185 in 1,613,344 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ).
Frequency
Consequence
NM_005640.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TAF4B | ENST00000269142.10 | c.585T>G | p.Pro195Pro | synonymous_variant | Exon 3 of 15 | 1 | NM_005640.3 | ENSP00000269142.6 | ||
TAF4B | ENST00000578121.5 | c.585T>G | p.Pro195Pro | synonymous_variant | Exon 3 of 15 | 2 | ENSP00000462980.1 | |||
TAF4B | ENST00000418698.3 | n.585T>G | non_coding_transcript_exon_variant | Exon 3 of 16 | 5 | ENSP00000389365.3 |
Frequencies
GnomAD3 genomes AF: 0.000131 AC: 20AN: 152240Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000353 AC: 88AN: 249478Hom.: 0 AF XY: 0.000325 AC XY: 44AN XY: 135350
GnomAD4 exome AF: 0.000190 AC: 278AN: 1460986Hom.: 1 Cov.: 29 AF XY: 0.000193 AC XY: 140AN XY: 726842
GnomAD4 genome AF: 0.000131 AC: 20AN: 152358Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74496
ClinVar
Submissions by phenotype
TAF4B-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