Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_000632(ITGAM):c.230G>A(p.Arg77His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.108 in 152038 control chromosomes in the gnomAD Genomes database, including 974 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R77C) has been classified as Uncertain significance.
Verdict is Benign. Variant got -14 ACMG points.
GnomAD3 genomes AF: 0.108AC: 16424AN: 152038Hom.: 974Cov.: 31 GnomAD3 exomes AF: 0.0967AC: 21083AN: 218036Hom.: 1170 AF XY: 0.0975AC XY: 11570AN XY: 118716 GnomAD4 exome AF: 0.101AC: 144937AN: 1440550Hom.: 7806 AF XY: 0.101AC XY: 71936AN XY: 715476
Submissions by phenotype
|Benign, criteria provided, single submitter||clinical testing||Invitae||Nov 03, 2022||- -|
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