3-20040557-C-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_003884.5(KAT2B):āc.80C>Gā(p.Pro27Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00121 in 1,063,948 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_003884.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KAT2B | NM_003884.5 | c.80C>G | p.Pro27Arg | missense_variant | 1/18 | ENST00000263754.5 | NP_003875.3 | |
KAT2B | XM_005265528.5 | c.80C>G | p.Pro27Arg | missense_variant | 1/17 | XP_005265585.1 | ||
KAT2B | XM_047449147.1 | c.-416C>G | 5_prime_UTR_variant | 1/20 | XP_047305103.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KAT2B | ENST00000263754.5 | c.80C>G | p.Pro27Arg | missense_variant | 1/18 | 1 | NM_003884.5 | ENSP00000263754.4 |
Frequencies
GnomAD3 genomes AF: 0.000957 AC: 140AN: 146366Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00125 AC: 1150AN: 917474Hom.: 1 Cov.: 29 AF XY: 0.00120 AC XY: 516AN XY: 430008
GnomAD4 genome AF: 0.000956 AC: 140AN: 146474Hom.: 0 Cov.: 31 AF XY: 0.000757 AC XY: 54AN XY: 71312
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 25, 2024 | The c.80C>G (p.P27R) alteration is located in exon 1 (coding exon 1) of the KAT2B gene. This alteration results from a C to G substitution at nucleotide position 80, causing the proline (P) at amino acid position 27 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
KAT2B-related disorder Benign:1
Likely benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Apr 25, 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