rs4327894

Variant names:

• chr8-1805331-A-C
• rs4327894
• ENST00000635855.1:n.543+33734A>C

Your query was ambiguous. Multiple possible variants found:

• chr8-1805331-A-C
• chr8-1805331-A-G
• chr8-1805331-A-T

Variant summary

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

The ENST00000635855.1(KBTBD11-OT1):​n.543+33734A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.79 in 151,660 control chromosomes in the GnomAD database, including 47,439 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 0.79 (47439 hom., cov: 29)
• Consequence: KBTBD11-OT1 ENST00000635855.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.12

Genes affected

KBTBD11-OT1 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.07).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.824 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
KBTBD11-OT1	ENST00000635855.1	n.543+33734A>C		intron_variant	Intron 2 of 29	5		ENSP00000489726.1
KBTBD11-OT1	ENST00000635773.1	n.495+33734A>C		intron_variant	Intron 1 of 27	5		ENSP00000490620.1
KBTBD11-OT1	ENST00000636175.1	n.342+33734A>C		intron_variant	Intron 1 of 6	5		ENSP00000490769.1

Frequencies

GnomAD3 genomes AF: 0.790 AC: 119660 AN: 151542 Hom.: 47384 Cov.: 29

Gnomad AFR AF: 0.831

Gnomad AMI AF: 0.798

Gnomad AMR AF: 0.705

Gnomad ASJ AF: 0.773

Gnomad EAS AF: 0.843

Gnomad SAS AF: 0.766

Gnomad FIN AF: 0.821

Gnomad MID AF: 0.810

Gnomad NFE AF: 0.777

Gnomad OTH AF: 0.798

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

GnomAD4 genome AF: 0.790 AC: 119768 AN: 151660 Hom.: 47439 Cov.: 29 AF XY: 0.789 AC XY: 58489 AN XY: 74094

Gnomad4 AFR AF: 0.831

Gnomad4 AMR AF: 0.704

Gnomad4 ASJ AF: 0.773

Gnomad4 EAS AF: 0.844

Gnomad4 SAS AF: 0.765

Gnomad4 FIN AF: 0.821

Gnomad4 NFE AF: 0.777

Gnomad4 OTH AF: 0.799

Alfa AF: 0.767 Hom.: 32152

Bravo AF: 0.782

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	0.15
DANN	Benign	0.22

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4327894; hg19: chr8-1753497;