rs6984769

Variant names:

• chr8-26052640-C-T
• rs6984769

Variant summary

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

The variant allele was found at a frequency of 0.198 in 152,090 control chromosomes in the GnomAD database, including 3,425 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 0.20 (3425 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.261
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.302 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: 0.198 AC: 30109 AN: 151972 Hom.: 3403 Cov.: 33

Gnomad AFR AF: 0.306

Gnomad AMI AF: 0.0954

Gnomad AMR AF: 0.188

Gnomad ASJ AF: 0.179

Gnomad EAS AF: 0.0299

Gnomad SAS AF: 0.170

Gnomad FIN AF: 0.118

Gnomad MID AF: 0.180

Gnomad NFE AF: 0.165

Gnomad OTH AF: 0.185

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

GnomAD4 genome AF: 0.198 AC: 30178 AN: 152090 Hom.: 3425 Cov.: 33 AF XY: 0.193 AC XY: 14358 AN XY: 74354

African (AFR) AF: 0.306 AC: 12695 AN: 41446

American (AMR) AF: 0.188 AC: 2880 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.179 AC: 620 AN: 3468

East Asian (EAS) AF: 0.0297 AC: 154 AN: 5178

South Asian (SAS) AF: 0.170 AC: 818 AN: 4824

European-Finnish (FIN) AF: 0.118 AC: 1246 AN: 10580

Middle Eastern (MID) AF: 0.180 AC: 53 AN: 294

European-Non Finnish (NFE) AF: 0.165 AC: 11229 AN: 67986

Other (OTH) AF: 0.187 AC: 396 AN: 2116

Alfa AF: 0.173 Hom.: 690

Bravo AF: 0.208

Asia WGS AF: 0.158 AC: 547 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	2.4
DANN	Benign	0.23
PhyloP100		-0.26

Splicing

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

Other links and lift over

dbSNP: rs6984769; hg19: chr8-25910156;