rs6993922

Variant names:

• chr8-26727097-G-A
• rs6993922

Your query was ambiguous. Multiple possible variants found:

• chr8-26727097-G-A
• chr8-26727097-G-C
• chr8-26727097-G-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

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: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.377

ACMG classification

Verdict is Benign. Variant got -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.

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

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

Gnomad4 AFR AF: 0.826

Gnomad4 AMR AF: 0.749

Gnomad4 ASJ AF: 0.910

Gnomad4 EAS AF: 0.748

Gnomad4 SAS AF: 0.719

Gnomad4 FIN AF: 0.953

Gnomad4 NFE AF: 0.921

Gnomad4 OTH AF: 0.863

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 v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6993922; hg19: chr8-26584614;