chrX-123907261-G-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001167.4(XIAP):c.*80G>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000164 in 915,611 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001167.4 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000269 AC: 3AN: 111551Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33759
GnomAD3 exomes AF: 0.0000302 AC: 4AN: 132506Hom.: 0 AF XY: 0.0000243 AC XY: 1AN XY: 41164
GnomAD4 exome AF: 0.0000149 AC: 12AN: 804060Hom.: 0 Cov.: 14 AF XY: 0.00000941 AC XY: 2AN XY: 212466
GnomAD4 genome AF: 0.0000269 AC: 3AN: 111551Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33759
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at