rs777303823
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_001167.4(XIAP):c.844G>A(p.Glu282Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000175 in 1,203,165 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 hemizygotes in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001167.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000107 AC: 12AN: 111686Hom.: 0 Cov.: 23 AF XY: 0.0000590 AC XY: 2AN XY: 33880
GnomAD3 exomes AF: 0.0000339 AC: 6AN: 177168Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 65302
GnomAD4 exome AF: 0.00000825 AC: 9AN: 1091479Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 360797
GnomAD4 genome AF: 0.000107 AC: 12AN: 111686Hom.: 0 Cov.: 23 AF XY: 0.0000590 AC XY: 2AN XY: 33880
ClinVar
Submissions by phenotype
not provided Uncertain:1
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Autoinflammatory syndrome Uncertain:1
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X-linked lymphoproliferative disease due to XIAP deficiency;C5399825:X-linked lymphoproliferative disease due to SH2D1A deficiency Uncertain:1
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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