X-78138870-T-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_015975.5(TAF9B):c.106A>G(p.Ile36Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000273 in 1,208,531 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 11 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015975.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000168 AC: 19AN: 113133Hom.: 0 Cov.: 24 AF XY: 0.000198 AC XY: 7AN XY: 35271
GnomAD3 exomes AF: 0.0000495 AC: 9AN: 181894Hom.: 0 AF XY: 0.0000452 AC XY: 3AN XY: 66358
GnomAD4 exome AF: 0.0000128 AC: 14AN: 1095398Hom.: 0 Cov.: 28 AF XY: 0.0000111 AC XY: 4AN XY: 360828
GnomAD4 genome AF: 0.000168 AC: 19AN: 113133Hom.: 0 Cov.: 24 AF XY: 0.000198 AC XY: 7AN XY: 35271
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.106A>G (p.I36V) alteration is located in exon 2 (coding exon 2) of the TAF9B gene. This alteration results from a A to G substitution at nucleotide position 106, causing the isoleucine (I) at amino acid position 36 to be replaced by a valine (V). 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