rs10070190

Variant names:

• chr5-26866262-G-A
• rs10070190

Your query was ambiguous. Multiple possible variants found:

• chr5-26866262-G-A
• chr5-26866262-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 0.609 in 151,704 control chromosomes in the GnomAD database, including 28,876 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 0.61 (28876 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0480
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.808 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: 0.609 AC: 92272 AN: 151584 Hom.: 28833 Cov.: 30

Gnomad AFR AF: 0.687

Gnomad AMI AF: 0.501

Gnomad AMR AF: 0.702

Gnomad ASJ AF: 0.541

Gnomad EAS AF: 0.828

Gnomad SAS AF: 0.792

Gnomad FIN AF: 0.470

Gnomad MID AF: 0.783

Gnomad NFE AF: 0.535

Gnomad OTH AF: 0.647

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

GnomAD4 genome AF: 0.609 AC: 92377 AN: 151704 Hom.: 28876 Cov.: 30 AF XY: 0.614 AC XY: 45475 AN XY: 74118

African (AFR) AF: 0.688 AC: 28447 AN: 41374

American (AMR) AF: 0.703 AC: 10692 AN: 15214

Ashkenazi Jewish (ASJ) AF: 0.541 AC: 1878 AN: 3472

East Asian (EAS) AF: 0.829 AC: 4234 AN: 5110

South Asian (SAS) AF: 0.793 AC: 3822 AN: 4822

European-Finnish (FIN) AF: 0.470 AC: 4947 AN: 10518

Middle Eastern (MID) AF: 0.769 AC: 226 AN: 294

European-Non Finnish (NFE) AF: 0.535 AC: 36315 AN: 67894

Other (OTH) AF: 0.649 AC: 1362 AN: 2100

Alfa AF: 0.596 Hom.: 10036

Bravo AF: 0.629

Asia WGS AF: 0.812 AC: 2824 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	4.1
DANN	Benign	0.50
PhyloP100		0.048

Splicing

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

Other links and lift over

dbSNP: rs10070190; hg19: chr5-26866371;