3-20040662-G-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_003884.5(KAT2B):c.185G>A(p.Gly62Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0014 in 1,526,918 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_003884.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KAT2B | NM_003884.5 | c.185G>A | p.Gly62Asp | missense_variant | 1/18 | ENST00000263754.5 | |
KAT2B | XM_005265528.5 | c.185G>A | p.Gly62Asp | missense_variant | 1/17 | ||
KAT2B | XM_047449147.1 | c.-311G>A | 5_prime_UTR_variant | 1/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KAT2B | ENST00000263754.5 | c.185G>A | p.Gly62Asp | missense_variant | 1/18 | 1 | NM_003884.5 | P1 | |
KAT2B | ENST00000426228.1 | upstream_gene_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.00102 AC: 154AN: 151506Hom.: 1 Cov.: 31
GnomAD3 exomes AF: 0.00132 AC: 181AN: 136946Hom.: 1 AF XY: 0.00112 AC XY: 88AN XY: 78782
GnomAD4 exome AF: 0.00144 AC: 1986AN: 1375304Hom.: 3 Cov.: 32 AF XY: 0.00143 AC XY: 977AN XY: 682402
GnomAD4 genome AF: 0.00102 AC: 154AN: 151614Hom.: 1 Cov.: 31 AF XY: 0.000891 AC XY: 66AN XY: 74070
ClinVar
Submissions by phenotype
KAT2B-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Apr 20, 2022 | 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