8-22011513-G-C

Variant names:

• chr8-22011513-G-C
• rs7013323
• ENST00000728632.1:n.*68G>C

Variant summary

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

The ENST00000728632.1(ENSG00000295206):​n.*68G>C variant causes a downstream gene change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.575 in 151,768 control chromosomes in the GnomAD database, including 25,640 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 0.57 (25640 hom., cov: 31)
• Consequence: ENSG00000295206 ENST00000728632.1 downstream_gene
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.448
• Publications: 3 publications found

Genes affected

ENSG00000295206 (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 (AFR) allele frequency at 95% confidence interval = 0.711 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000728632.1. 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
	ENSG00000295206	ENST00000728632.1		n.*68G>C		downstream_gene	N/A

Frequencies

GnomAD3 genomes AF: 0.575 AC: 87158 AN: 151650 Hom.: 25600 Cov.: 31

Gnomad AFR AF: 0.718

Gnomad AMI AF: 0.584

Gnomad AMR AF: 0.450

Gnomad ASJ AF: 0.479

Gnomad EAS AF: 0.543

Gnomad SAS AF: 0.439

Gnomad FIN AF: 0.532

Gnomad MID AF: 0.529

Gnomad NFE AF: 0.540

Gnomad OTH AF: 0.568

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

GnomAD4 genome AF: 0.575 AC: 87257 AN: 151768 Hom.: 25640 Cov.: 31 AF XY: 0.568 AC XY: 42125 AN XY: 74146

African (AFR) AF: 0.718 AC: 29726 AN: 41398

American (AMR) AF: 0.449 AC: 6852 AN: 15246

Ashkenazi Jewish (ASJ) AF: 0.479 AC: 1660 AN: 3468

East Asian (EAS) AF: 0.542 AC: 2798 AN: 5160

South Asian (SAS) AF: 0.440 AC: 2115 AN: 4808

European-Finnish (FIN) AF: 0.532 AC: 5577 AN: 10488

Middle Eastern (MID) AF: 0.538 AC: 157 AN: 292

European-Non Finnish (NFE) AF: 0.540 AC: 36646 AN: 67896

Other (OTH) AF: 0.568 AC: 1198 AN: 2108

Alfa AF: 0.554 Hom.: 2785

Bravo AF: 0.578

Asia WGS AF: 0.532 AC: 1852 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	0.43
DANN	Benign	0.26
PhyloP100		-0.45

Splicing

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

Other links and lift over

dbSNP: rs7013323; hg19: chr8-21869024;