10-60042719-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_020987.5(ANK3):c.13106G>A(p.Arg4369Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00637 in 1,613,858 control chromosomes in the GnomAD database, including 54 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_020987.5 missense
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: 0.00520 AC: 791AN: 151972Hom.: 3 Cov.: 33
GnomAD3 exomes AF: 0.00573 AC: 1441AN: 251412Hom.: 10 AF XY: 0.00589 AC XY: 801AN XY: 135886
GnomAD4 exome AF: 0.00649 AC: 9490AN: 1461768Hom.: 51 Cov.: 30 AF XY: 0.00658 AC XY: 4784AN XY: 727194
GnomAD4 genome AF: 0.00519 AC: 790AN: 152090Hom.: 3 Cov.: 33 AF XY: 0.00485 AC XY: 361AN XY: 74372
ClinVar
Submissions by phenotype
not provided Benign:3
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ANK3: BP4, BS2 -
not specified Benign:1
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Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Benign:1
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ANK3-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at