rs7818667

Variant names:

• chr8-110820376-T-A
• rs7818667

Your query was ambiguous. Multiple possible variants found:

• chr8-110820376-T-A
• chr8-110820376-T-G

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 0.835 in 152,176 control chromosomes in the GnomAD database, including 54,091 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 0.84 (54091 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.524

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.934 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: 0.835 AC: 127032 AN: 152058 Hom.: 54033 Cov.: 33

Gnomad AFR AF: 0.942

Gnomad AMI AF: 0.945

Gnomad AMR AF: 0.714

Gnomad ASJ AF: 0.817

Gnomad EAS AF: 0.416

Gnomad SAS AF: 0.630

Gnomad FIN AF: 0.851

Gnomad MID AF: 0.823

Gnomad NFE AF: 0.842

Gnomad OTH AF: 0.831

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

GnomAD4 genome AF: 0.836 AC: 127143 AN: 152176 Hom.: 54091 Cov.: 33 AF XY: 0.826 AC XY: 61483 AN XY: 74406

Gnomad4 AFR AF: 0.942

Gnomad4 AMR AF: 0.713

Gnomad4 ASJ AF: 0.817

Gnomad4 EAS AF: 0.415

Gnomad4 SAS AF: 0.632

Gnomad4 FIN AF: 0.851

Gnomad4 NFE AF: 0.842

Gnomad4 OTH AF: 0.826

Alfa AF: 0.836 Hom.: 6638

Bravo AF: 0.832

Asia WGS AF: 0.543 AC: 1878 AN: 3452

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.76
DANN	Benign	0.67

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7818667; hg19: chr8-111832605;