8-70571274-T-G

Variant names:

• chr8-70571274-T-G
• rs268564
• ENST00000755107.1:n.594-11944T>G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000755107.1(ENSG00000298363):​n.594-11944T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.733 in 151,992 control chromosomes in the GnomAD database, including 42,563 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 (42563 hom., cov: 31)
• Consequence: ENSG00000298363 ENST00000755107.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.896
• Publications: 5 publications found

Genes affected

ENSG00000298363 (HGNC:):

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.84 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000755107.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000298363	ENST00000755107.1		n.594-11944T>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.734 AC: 111405 AN: 151874 Hom.: 42558 Cov.: 31

Gnomad AFR AF: 0.536

Gnomad AMI AF: 0.877

Gnomad AMR AF: 0.611

Gnomad ASJ AF: 0.819

Gnomad EAS AF: 0.703

Gnomad SAS AF: 0.769

Gnomad FIN AF: 0.912

Gnomad MID AF: 0.816

Gnomad NFE AF: 0.846

Gnomad OTH AF: 0.759

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

GnomAD4 genome AF: 0.733 AC: 111441 AN: 151992 Hom.: 42563 Cov.: 31 AF XY: 0.736 AC XY: 54723 AN XY: 74314

African (AFR) AF: 0.535 AC: 22148 AN: 41386

American (AMR) AF: 0.610 AC: 9322 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.819 AC: 2840 AN: 3468

East Asian (EAS) AF: 0.704 AC: 3641 AN: 5174

South Asian (SAS) AF: 0.769 AC: 3688 AN: 4796

European-Finnish (FIN) AF: 0.912 AC: 9658 AN: 10594

Middle Eastern (MID) AF: 0.820 AC: 241 AN: 294

European-Non Finnish (NFE) AF: 0.846 AC: 57501 AN: 67982

Other (OTH) AF: 0.763 AC: 1606 AN: 2106

Alfa AF: 0.786 Hom.: 5663

Bravo AF: 0.701

Asia WGS AF: 0.702 AC: 2439 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.86
DANN	Benign	0.36
PhyloP100		-0.90

Splicing

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

Other links and lift over

dbSNP: rs268564; hg19: chr8-71483509;