rs850713
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_002087.4(GRN):c.462+24G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.249 in 1,602,776 control chromosomes in the GnomAD database, including 52,495 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_002087.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.276 AC: 41338AN: 149572Hom.: 6049 Cov.: 25
GnomAD3 exomes AF: 0.281 AC: 70539AN: 250930Hom.: 10657 AF XY: 0.282 AC XY: 38323AN XY: 135690
GnomAD4 exome AF: 0.246 AC: 357114AN: 1453084Hom.: 46445 Cov.: 33 AF XY: 0.248 AC XY: 179720AN XY: 723452
GnomAD4 genome AF: 0.276 AC: 41346AN: 149692Hom.: 6050 Cov.: 25 AF XY: 0.278 AC XY: 20311AN XY: 72962
ClinVar
Submissions by phenotype
not provided Benign:3
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at