rs2702910

Variant names:

• chr8-6966369-G-A
• rs2702910

Your query was ambiguous. Multiple possible variants found:

• chr8-6966369-G-A
• chr8-6966369-G-T

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 0.274 in 152,250 control chromosomes in the GnomAD database, including 6,024 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 0.27 (6024 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.196
• Publications: 11 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.304 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: 0.274 AC: 41678 AN: 152132 Hom.: 6017 Cov.: 34

Gnomad AFR AF: 0.179

Gnomad AMI AF: 0.264

Gnomad AMR AF: 0.289

Gnomad ASJ AF: 0.300

Gnomad EAS AF: 0.316

Gnomad SAS AF: 0.295

Gnomad FIN AF: 0.378

Gnomad MID AF: 0.310

Gnomad NFE AF: 0.306

Gnomad OTH AF: 0.282

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

GnomAD4 genome AF: 0.274 AC: 41705 AN: 152250 Hom.: 6024 Cov.: 34 AF XY: 0.278 AC XY: 20732 AN XY: 74450

African (AFR) AF: 0.179 AC: 7440 AN: 41538

American (AMR) AF: 0.289 AC: 4422 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.300 AC: 1042 AN: 3472

East Asian (EAS) AF: 0.316 AC: 1641 AN: 5186

South Asian (SAS) AF: 0.295 AC: 1422 AN: 4828

European-Finnish (FIN) AF: 0.378 AC: 4008 AN: 10606

Middle Eastern (MID) AF: 0.306 AC: 90 AN: 294

European-Non Finnish (NFE) AF: 0.306 AC: 20794 AN: 68000

Other (OTH) AF: 0.286 AC: 605 AN: 2114

Alfa AF: 0.294 Hom.: 19181

Bravo AF: 0.261

Asia WGS AF: 0.339 AC: 1180 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.57
DANN	Benign	0.44
PhyloP100		-0.20

Splicing

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

Other links and lift over

dbSNP: rs2702910; hg19: chr8-6823891;