chr11-113388065-G-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_178510.2(ANKK1):c.181G>A(p.Ala61Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000403 in 1,488,890 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_178510.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000342 AC: 52AN: 152126Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000715 AC: 82AN: 114720Hom.: 0 AF XY: 0.000850 AC XY: 54AN XY: 63534
GnomAD4 exome AF: 0.000410 AC: 548AN: 1336646Hom.: 2 Cov.: 31 AF XY: 0.000458 AC XY: 299AN XY: 653086
GnomAD4 genome AF: 0.000342 AC: 52AN: 152244Hom.: 0 Cov.: 33 AF XY: 0.000363 AC XY: 27AN XY: 74442
ClinVar
Submissions by phenotype
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). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at