19-1041972-T-G
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBS1_SupportingBS2
The NM_019112.4(ABCA7):āc.302T>Gā(p.Leu101Arg) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.00186 in 1,583,254 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. 2/2 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_019112.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00102 AC: 156AN: 152214Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000802 AC: 174AN: 216986Hom.: 0 AF XY: 0.000828 AC XY: 100AN XY: 120840
GnomAD4 exome AF: 0.00195 AC: 2791AN: 1430922Hom.: 4 Cov.: 32 AF XY: 0.00182 AC XY: 1297AN XY: 711158
GnomAD4 genome AF: 0.00102 AC: 156AN: 152332Hom.: 0 Cov.: 32 AF XY: 0.000940 AC XY: 70AN XY: 74490
ClinVar
Submissions by phenotype
Amyotrophic lateral sclerosis Uncertain:1
ACMG criteria used to clasify this variant: PS4_SUP, PM2_SUP, PP1_SUP, PP3_SUP -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at