ENST00000564021.1:n.113+1239_113+1240insACAC

Variant names:

• chr9-133631747-G-GGTGT
• rs72191426
• ENST00000564021.1:n.113+1239_113+1240insACAC

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1

The ENST00000564021.1(ENSG00000261018):​n.113+1239_113+1240insACAC variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.11 (1079 hom., cov: 0)
• Consequence: ENSG00000261018 ENST00000564021.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.11
• Publications: 0 publications found

Genes affected

ENSG00000261018 (HGNC:):

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.182 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000564021.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000261018	ENST00000564021.1	TSL:3	n.113+1239_113+1240insACAC		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.113 AC: 16960 AN: 149704 Hom.: 1078 Cov.: 0

Gnomad AFR AF: 0.185

Gnomad AMI AF: 0.0670

Gnomad AMR AF: 0.0801

Gnomad ASJ AF: 0.105

Gnomad EAS AF: 0.0251

Gnomad SAS AF: 0.0864

Gnomad FIN AF: 0.0772

Gnomad MID AF: 0.0677

Gnomad NFE AF: 0.0927

Gnomad OTH AF: 0.115

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

GnomAD4 genome AF: 0.113 AC: 16981 AN: 149806 Hom.: 1079 Cov.: 0 AF XY: 0.111 AC XY: 8117 AN XY: 73014

African (AFR) AF: 0.185 AC: 7523 AN: 40666

American (AMR) AF: 0.0800 AC: 1208 AN: 15092

Ashkenazi Jewish (ASJ) AF: 0.105 AC: 363 AN: 3446

East Asian (EAS) AF: 0.0254 AC: 128 AN: 5040

South Asian (SAS) AF: 0.0865 AC: 405 AN: 4680

European-Finnish (FIN) AF: 0.0772 AC: 797 AN: 10318

Middle Eastern (MID) AF: 0.0729 AC: 21 AN: 288

European-Non Finnish (NFE) AF: 0.0927 AC: 6240 AN: 67294

Other (OTH) AF: 0.113 AC: 235 AN: 2072

Alfa AF: 0.0572 Hom.: 153

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		1.1

Splicing

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

Other links and lift over

dbSNP: rs72191426; hg19: chr9-136496869;