1-109074995-G-GA
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005645.4(TAF13):c.97dupT(p.Ser33PhefsTer2) variant causes a frameshift change. The variant allele was found at a frequency of 0.0000307 in 1,595,252 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005645.4 frameshift
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TAF13 | NM_005645.4 | c.97dupT | p.Ser33PhefsTer2 | frameshift_variant | Exon 2 of 4 | ENST00000338366.6 | NP_005636.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TAF13 | ENST00000338366.6 | c.97dupT | p.Ser33PhefsTer2 | frameshift_variant | Exon 2 of 4 | 1 | NM_005645.4 | ENSP00000355051.4 | ||
TAF13 | ENST00000692048.1 | c.97dupT | p.Ser33PhefsTer2 | frameshift_variant | Exon 2 of 5 | ENSP00000508876.1 | ||||
TAF13 | ENST00000461096.7 | c.-18dupT | 5_prime_UTR_variant | Exon 2 of 4 | 5 | ENSP00000433883.2 |
Frequencies
GnomAD3 genomes AF: 0.000145 AC: 22AN: 152052Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000342 AC: 8AN: 233776Hom.: 0 AF XY: 0.00000791 AC XY: 1AN XY: 126460
GnomAD4 exome AF: 0.0000187 AC: 27AN: 1443082Hom.: 0 Cov.: 29 AF XY: 0.0000139 AC XY: 10AN XY: 717770
GnomAD4 genome AF: 0.000145 AC: 22AN: 152170Hom.: 0 Cov.: 32 AF XY: 0.000188 AC XY: 14AN XY: 74394
ClinVar
Submissions by phenotype
not specified Uncertain:1
Variant summary: TAF13 c.97dupT (p.Ser33PhefsX2) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, however the molecular mechanism of disease attributed to TAF13 is currently unknown. The variant allele was found at a frequency of 3.4e-05 in 233776 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.97dupT in individuals affected with Intellectual Disability, Autosomal Recessive 60 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as uncertain significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at