chr19-1056493-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_019112.4(ABCA7):āc.4580G>Cā(p.Gly1527Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.831 in 1,612,048 control chromosomes in the GnomAD database, including 559,162 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_019112.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.862 AC: 131155AN: 152064Hom.: 56979 Cov.: 31
GnomAD3 exomes AF: 0.840 AC: 207104AN: 246680Hom.: 87533 AF XY: 0.836 AC XY: 111976AN XY: 133892
GnomAD4 exome AF: 0.828 AC: 1208802AN: 1459866Hom.: 502125 Cov.: 67 AF XY: 0.828 AC XY: 601248AN XY: 726214
GnomAD4 genome AF: 0.863 AC: 131264AN: 152182Hom.: 57037 Cov.: 31 AF XY: 0.864 AC XY: 64277AN XY: 74392
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at