3-20135980-C-A

Position:

• chr3-20135980-C-A

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_003884.5(KAT2B):​c.1750-962C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.734 in 152,070 control chromosomes in the GnomAD database, including 42,030 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.73 (42030 hom., cov: 31)
• Consequence: KAT2B NM_003884.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.928

Genes affected

KAT2B (HGNC:8638): (lysine acetyltransferase 2B) CBP and p300 are large nuclear proteins that bind to many sequence-specific factors involved in cell growth and/or differentiation, including c-jun and the adenoviral oncoprotein E1A. The protein encoded by this gene associates with p300/CBP. It has in vitro and in vivo binding activity with CBP and p300, and competes with E1A for binding sites in p300/CBP. It has histone acetyl transferase activity with core histones and nucleosome core particles, indicating that this protein plays a direct role in transcriptional regulation. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.929 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
KAT2B	NM_003884.5	c.1750-962C>A		intron_variant		ENST00000263754.5	NP_003875.3
KAT2B	XM_005265528.5	c.1750-962C>A		intron_variant			XP_005265585.1
KAT2B	XM_047449147.1	c.1459-962C>A		intron_variant			XP_047305103.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
KAT2B	ENST00000263754.5	c.1750-962C>A		intron_variant		1	NM_003884.5	ENSP00000263754	P1
KAT2B	ENST00000468111.1	n.73-962C>A		intron_variant, non_coding_transcript_variant		3

Frequencies

GnomAD3 genomes AF: 0.734 AC: 111583 AN: 151952 Hom.: 41986 Cov.: 31

Gnomad AFR AF: 0.873

Gnomad AMI AF: 0.555

Gnomad AMR AF: 0.750

Gnomad ASJ AF: 0.567

Gnomad EAS AF: 0.951

Gnomad SAS AF: 0.799

Gnomad FIN AF: 0.671

Gnomad MID AF: 0.500

Gnomad NFE AF: 0.648

Gnomad OTH AF: 0.692

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.734 AC: 111687 AN: 152070 Hom.: 42030 Cov.: 31 AF XY: 0.737 AC XY: 54812 AN XY: 74330

Gnomad4 AFR AF: 0.873

Gnomad4 AMR AF: 0.750

Gnomad4 ASJ AF: 0.567

Gnomad4 EAS AF: 0.952

Gnomad4 SAS AF: 0.797

Gnomad4 FIN AF: 0.671

Gnomad4 NFE AF: 0.648

Gnomad4 OTH AF: 0.693

Alfa AF: 0.654 Hom.: 41893

Bravo AF: 0.747

Asia WGS AF: 0.862 AC: 2997 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.22
DANN	Benign	0.60

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs9829896; hg19: chr3-20177472;