rs61307956
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 2P and 16B. PM2BP4_StrongBP6_Very_StrongBS1
The NM_020686.6(ABAT):c.366+10G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000158 in 1,613,870 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_020686.6 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000920 AC: 140AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000203 AC: 51AN: 251454Hom.: 0 AF XY: 0.000155 AC XY: 21AN XY: 135896
GnomAD4 exome AF: 0.0000787 AC: 115AN: 1461606Hom.: 1 Cov.: 31 AF XY: 0.0000578 AC XY: 42AN XY: 727130
GnomAD4 genome AF: 0.000919 AC: 140AN: 152264Hom.: 0 Cov.: 32 AF XY: 0.00101 AC XY: 75AN XY: 74452
ClinVar
Submissions by phenotype
ABAT-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). -
Gamma-aminobutyric acid transaminase deficiency Benign:1
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not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at