rs1800497
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_178510.2(ANKK1):c.2137G>A(p.Glu713Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.223 in 1,612,642 control chromosomes in the GnomAD database, including 43,632 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_178510.2 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: 0.258 AC: 39295AN: 152052Hom.: 5529 Cov.: 34
GnomAD3 exomes AF: 0.264 AC: 65225AN: 246888Hom.: 9971 AF XY: 0.254 AC XY: 34091AN XY: 134200
GnomAD4 exome AF: 0.219 AC: 320284AN: 1460472Hom.: 38093 Cov.: 41 AF XY: 0.219 AC XY: 159389AN XY: 726500
GnomAD4 genome AF: 0.259 AC: 39345AN: 152170Hom.: 5539 Cov.: 34 AF XY: 0.262 AC XY: 19479AN XY: 74384
ClinVar
Submissions by phenotype
not specified Benign:1
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ANKK1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Schizophrenia Benign:1
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not provided Benign:1
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Taq1A POLYMORPHISM Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at