rs773753966
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 1P and 16B. PM4_SupportingBP6_Very_StrongBS1BS2
The NM_004606.5(TAF1):c.833_835dupAGG(p.Glu278dup) variant causes a disruptive inframe insertion change. The variant allele was found at a frequency of 0.00104 in 111,479 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 26 hemizygotes in GnomAD. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_004606.5 disruptive_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00104 AC: 116AN: 111426Hom.: 0 Cov.: 22 AF XY: 0.000774 AC XY: 26AN XY: 33594
GnomAD3 exomes AF: 0.000676 AC: 124AN: 183388Hom.: 0 AF XY: 0.000722 AC XY: 49AN XY: 67832
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00156 AC: 1717AN: 1098207Hom.: 1 Cov.: 31 AF XY: 0.00149 AC XY: 542AN XY: 363567
GnomAD4 genome AF: 0.00104 AC: 116AN: 111479Hom.: 0 Cov.: 22 AF XY: 0.000772 AC XY: 26AN XY: 33657
ClinVar
Submissions by phenotype
not provided Benign:2
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TAF1-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). -
Inborn genetic diseases Benign:1
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at