20-50892146-G-A
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_001282531.3(ADNP):c.2568C>T(p.Val856Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0294 in 1,613,998 control chromosomes in the GnomAD database, including 3,764 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001282531.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0945 AC: 14365AN: 152016Hom.: 1837 Cov.: 33
GnomAD3 exomes AF: 0.0369 AC: 9260AN: 251074Hom.: 759 AF XY: 0.0321 AC XY: 4349AN XY: 135682
GnomAD4 exome AF: 0.0227 AC: 33114AN: 1461864Hom.: 1915 Cov.: 35 AF XY: 0.0218 AC XY: 15845AN XY: 727232
GnomAD4 genome AF: 0.0947 AC: 14403AN: 152134Hom.: 1849 Cov.: 33 AF XY: 0.0917 AC XY: 6820AN XY: 74388
ClinVar
Submissions by phenotype
not provided Benign:3
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Inborn genetic diseases Benign:1
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at