X-123886097-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_ModerateBP6_Moderate
The NM_001167.4(XIAP):c.435G>T(p.Gln145His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000413 in 1,210,046 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001167.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000179 AC: 2AN: 112039Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34203
GnomAD3 exomes AF: 0.0000110 AC: 2AN: 182607Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67425
GnomAD4 exome AF: 0.00000273 AC: 3AN: 1098007Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 363385
GnomAD4 genome AF: 0.0000179 AC: 2AN: 112039Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34203
ClinVar
Submissions by phenotype
X-linked lymphoproliferative disease due to XIAP deficiency Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at