chr8-26727097-G-A

Variant names:

• chr8-26727097-G-A
• rs6993922
• ENST00000792407.1:n.86-5199G>A

Variant summary

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

The ENST00000792407.1(ENSG00000303169):​n.86-5199G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.866 in 152,188 control chromosomes in the GnomAD database, including 57,613 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 0.87 (57613 hom., cov: 32)
• Consequence: ENSG00000303169 ENST00000792407.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.377
• Publications: 3 publications found

Genes affected

ENSG00000303169 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.915 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000792407.1. 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
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000303169	ENST00000792407.1		n.86-5199G>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.866 AC: 131751 AN: 152068 Hom.: 57578 Cov.: 32

Gnomad AFR AF: 0.825

Gnomad AMI AF: 0.859

Gnomad AMR AF: 0.750

Gnomad ASJ AF: 0.910

Gnomad EAS AF: 0.747

Gnomad SAS AF: 0.719

Gnomad FIN AF: 0.953

Gnomad MID AF: 0.858

Gnomad NFE AF: 0.921

Gnomad OTH AF: 0.866

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

GnomAD4 genome AF: 0.866 AC: 131835 AN: 152188 Hom.: 57613 Cov.: 32 AF XY: 0.862 AC XY: 64118 AN XY: 74386

African (AFR) AF: 0.826 AC: 34267 AN: 41508

American (AMR) AF: 0.749 AC: 11446 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.910 AC: 3158 AN: 3470

East Asian (EAS) AF: 0.748 AC: 3862 AN: 5166

South Asian (SAS) AF: 0.719 AC: 3462 AN: 4812

European-Finnish (FIN) AF: 0.953 AC: 10106 AN: 10608

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

European-Non Finnish (NFE) AF: 0.921 AC: 62677 AN: 68022

Other (OTH) AF: 0.863 AC: 1823 AN: 2112

Alfa AF: 0.899 Hom.: 8014

Bravo AF: 0.848

Asia WGS AF: 0.728 AC: 2533 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.060
DANN	Benign	0.46
PhyloP100		-0.38

Splicing

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

Other links and lift over

dbSNP: rs6993922; hg19: chr8-26584614;