20-50891433-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BS2
The NM_001282531.3(ADNP):c.3281G>T(p.Gly1094Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000343 in 1,458,320 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_001282531.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000404 AC: 1AN: 247626Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133894
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1458320Hom.: 0 Cov.: 35 AF XY: 0.00000414 AC XY: 3AN XY: 725474
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.3281G>T (p.G1094V) alteration is located in exon 5 (coding exon 3) of the ADNP gene. This alteration results from a G to T substitution at nucleotide position 3281, causing the glycine (G) at amino acid position 1094 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
not provided Uncertain:1
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This missense change has been observed in individual(s) with autism spectrum disorder (PMID: 26637798). This variant is present in population databases (rs780706686, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1094 of the ADNP protein (p.Gly1094Val). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at