rs182978198
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 1P and 16B. PP2BP6_Very_StrongBS1BS2
The NM_012330.4(KAT6B):āc.3685A>Gā(p.Ser1229Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000116 in 1,614,214 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/23 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_012330.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KAT6B | NM_012330.4 | c.3685A>G | p.Ser1229Gly | missense_variant | 18/18 | ENST00000287239.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KAT6B | ENST00000287239.10 | c.3685A>G | p.Ser1229Gly | missense_variant | 18/18 | 1 | NM_012330.4 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.000197 AC: 30AN: 152216Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000402 AC: 101AN: 251388Hom.: 1 AF XY: 0.000420 AC XY: 57AN XY: 135876
GnomAD4 exome AF: 0.000108 AC: 158AN: 1461880Hom.: 2 Cov.: 34 AF XY: 0.0000894 AC XY: 65AN XY: 727244
GnomAD4 genome ? AF: 0.000197 AC: 30AN: 152334Hom.: 0 Cov.: 32 AF XY: 0.000268 AC XY: 20AN XY: 74492
ClinVar
Submissions by phenotype
Genitopatellar syndrome Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 11, 2023 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics | Aug 02, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at