8-81307404-A-G

Variant names:

• chr8-81307404-A-G
• rs202292
• ENST00000720714.1:n.341+17764A>G

Variant summary

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

The ENST00000720714.1(ENSG00000294051):​n.341+17764A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.754 in 152,170 control chromosomes in the GnomAD database, including 46,310 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 0.75 (46310 hom., cov: 33)
• Consequence: ENSG00000294051 ENST00000720714.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.240
• Publications: 0 publications found

Genes affected

ENSG00000294051 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.976 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000720714.1. 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
	ENSG00000294051	ENST00000720714.1		n.341+17764A>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.755 AC: 114771 AN: 152052 Hom.: 46308 Cov.: 33

Gnomad AFR AF: 0.437

Gnomad AMI AF: 0.885

Gnomad AMR AF: 0.846

Gnomad ASJ AF: 0.859

Gnomad EAS AF: 0.998

Gnomad SAS AF: 0.875

Gnomad FIN AF: 0.904

Gnomad MID AF: 0.851

Gnomad NFE AF: 0.869

Gnomad OTH AF: 0.791

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

GnomAD4 genome AF: 0.754 AC: 114797 AN: 152170 Hom.: 46310 Cov.: 33 AF XY: 0.761 AC XY: 56659 AN XY: 74410

African (AFR) AF: 0.436 AC: 18110 AN: 41508

American (AMR) AF: 0.846 AC: 12935 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.859 AC: 2981 AN: 3472

East Asian (EAS) AF: 0.998 AC: 5165 AN: 5174

South Asian (SAS) AF: 0.875 AC: 4219 AN: 4824

European-Finnish (FIN) AF: 0.904 AC: 9570 AN: 10586

Middle Eastern (MID) AF: 0.854 AC: 251 AN: 294

European-Non Finnish (NFE) AF: 0.869 AC: 59093 AN: 68006

Other (OTH) AF: 0.791 AC: 1666 AN: 2106

Alfa AF: 0.738 Hom.: 2616

Bravo AF: 0.738

Asia WGS AF: 0.901 AC: 3131 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	6.0
DANN	Benign	0.86
PhyloP100		0.24

Splicing

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

Other links and lift over

dbSNP: rs202292; hg19: chr8-82219639;