rs7094187

Variant names:

• chr10-22731421-G-A
• rs7094187

Your query was ambiguous. Multiple possible variants found:

• chr10-22731421-G-A
• chr10-22731421-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 0.416 in 151,824 control chromosomes in the GnomAD database, including 16,289 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 0.42 (16289 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.870
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.727 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: 0.415 AC: 63012 AN: 151706 Hom.: 16235 Cov.: 32

Gnomad AFR AF: 0.733

Gnomad AMI AF: 0.254

Gnomad AMR AF: 0.272

Gnomad ASJ AF: 0.357

Gnomad EAS AF: 0.106

Gnomad SAS AF: 0.364

Gnomad FIN AF: 0.223

Gnomad MID AF: 0.411

Gnomad NFE AF: 0.316

Gnomad OTH AF: 0.408

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

GnomAD4 genome AF: 0.416 AC: 63114 AN: 151824 Hom.: 16289 Cov.: 32 AF XY: 0.406 AC XY: 30146 AN XY: 74186

African (AFR) AF: 0.734 AC: 30442 AN: 41484

American (AMR) AF: 0.271 AC: 4135 AN: 15248

Ashkenazi Jewish (ASJ) AF: 0.357 AC: 1237 AN: 3464

East Asian (EAS) AF: 0.105 AC: 543 AN: 5168

South Asian (SAS) AF: 0.363 AC: 1741 AN: 4800

European-Finnish (FIN) AF: 0.223 AC: 2333 AN: 10482

Middle Eastern (MID) AF: 0.422 AC: 124 AN: 294

European-Non Finnish (NFE) AF: 0.316 AC: 21469 AN: 67872

Other (OTH) AF: 0.408 AC: 860 AN: 2106

Alfa AF: 0.347 Hom.: 5256

Bravo AF: 0.431

Asia WGS AF: 0.269 AC: 935 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.5
DANN	Benign	0.34
PhyloP100		-0.87

Splicing

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

Other links and lift over

dbSNP: rs7094187; hg19: chr10-23020350;