Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_926691.3(LOC112267902):n.964+175A>G variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.344 in 151922 control chromosomes in the gnomAD Genomes database, including 9281 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as risk factor (no stars).
XR_926691.3 intron, non_coding_transcript
Verdict is Benign. Variant got -12 ACMG points.
GnomAD3 genomes AF: 0.344AC: 52288AN: 151922Hom.: 9281Cov.: 32
Submissions by phenotype
HIV-1 viremia, susceptibility to
|risk factor, no assertion criteria provided||literature only||OMIM||Dec 01, 2009||- -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at