9-133631747-GGTGTGTGTGTGTGTGT-GGTGTGTGTGTGTGTGTGT

Variant names:

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

Variant summary

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

The ENST00000564021.1(ENSG00000261018):​n.113+1239_113+1240insAC 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 0.33 (8006 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 (SAS) allele frequency at 95% confidence interval = 0.376 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
ENSG00000261018	ENST00000564021.1	n.113+1239_113+1240insAC		intron_variant	Intron 1 of 1	3

Frequencies

GnomAD3 genomes AF: 0.328 AC: 49055 AN: 149652 Hom.: 8016 Cov.: 0

Gnomad AFR AF: 0.342

Gnomad AMI AF: 0.337

Gnomad AMR AF: 0.370

Gnomad ASJ AF: 0.365

Gnomad EAS AF: 0.253

Gnomad SAS AF: 0.391

Gnomad FIN AF: 0.268

Gnomad MID AF: 0.381

Gnomad NFE AF: 0.318

Gnomad OTH AF: 0.318

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

GnomAD4 genome AF: 0.328 AC: 49072 AN: 149750 Hom.: 8006 Cov.: 0 AF XY: 0.327 AC XY: 23877 AN XY: 72972

African (AFR) AF: 0.341 AC: 13886 AN: 40666

American (AMR) AF: 0.369 AC: 5572 AN: 15084

Ashkenazi Jewish (ASJ) AF: 0.365 AC: 1257 AN: 3442

East Asian (EAS) AF: 0.253 AC: 1274 AN: 5032

South Asian (SAS) AF: 0.390 AC: 1825 AN: 4674

European-Finnish (FIN) AF: 0.268 AC: 2762 AN: 10308

Middle Eastern (MID) AF: 0.368 AC: 106 AN: 288

European-Non Finnish (NFE) AF: 0.319 AC: 21428 AN: 67276

Other (OTH) AF: 0.317 AC: 656 AN: 2072

Alfa AF: 0.115 Hom.: 153

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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;