rs6985069

Variant names:

• chr8-28228571-G-A
• rs6985069

Your query was ambiguous. Multiple possible variants found:

• chr8-28228571-G-A
• chr8-28228571-G-C
• chr8-28228571-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 0.672 in 152,022 control chromosomes in the GnomAD database, including 34,882 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 0.67 (34882 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.167

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.844 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: 0.672 AC: 102055 AN: 151904 Hom.: 34870 Cov.: 32

Gnomad AFR AF: 0.559

Gnomad AMI AF: 0.603

Gnomad AMR AF: 0.608

Gnomad ASJ AF: 0.800

Gnomad EAS AF: 0.865

Gnomad SAS AF: 0.770

Gnomad FIN AF: 0.666

Gnomad MID AF: 0.797

Gnomad NFE AF: 0.727

Gnomad OTH AF: 0.683

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

GnomAD4 genome AF: 0.672 AC: 102111 AN: 152022 Hom.: 34882 Cov.: 32 AF XY: 0.670 AC XY: 49772 AN XY: 74296

Gnomad4 AFR AF: 0.559

Gnomad4 AMR AF: 0.608

Gnomad4 ASJ AF: 0.800

Gnomad4 EAS AF: 0.865

Gnomad4 SAS AF: 0.770

Gnomad4 FIN AF: 0.666

Gnomad4 NFE AF: 0.727

Gnomad4 OTH AF: 0.683

Alfa AF: 0.674 Hom.: 5510

Bravo AF: 0.663

Asia WGS AF: 0.776 AC: 2698 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	5.6
DANN	Benign	0.75

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6985069; hg19: chr8-28086088;