rs7085622

Variant names:

• chr10-111760180-A-G
• rs7085622

Your query was ambiguous. Multiple possible variants found:

• chr10-111760180-A-G
• chr10-111760180-A-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 0.879 in 152,146 control chromosomes in the GnomAD database, including 59,206 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 0.88 (59206 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.139
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.942 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: 0.879 AC: 133666 AN: 152028 Hom.: 59175 Cov.: 33

Gnomad AFR AF: 0.774

Gnomad AMI AF: 0.957

Gnomad AMR AF: 0.869

Gnomad ASJ AF: 0.895

Gnomad EAS AF: 0.798

Gnomad SAS AF: 0.776

Gnomad FIN AF: 0.939

Gnomad MID AF: 0.883

Gnomad NFE AF: 0.948

Gnomad OTH AF: 0.882

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

GnomAD4 genome AF: 0.879 AC: 133745 AN: 152146 Hom.: 59206 Cov.: 33 AF XY: 0.876 AC XY: 65153 AN XY: 74362

African (AFR) AF: 0.774 AC: 32092 AN: 41480

American (AMR) AF: 0.869 AC: 13288 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.895 AC: 3108 AN: 3472

East Asian (EAS) AF: 0.798 AC: 4108 AN: 5146

South Asian (SAS) AF: 0.778 AC: 3754 AN: 4828

European-Finnish (FIN) AF: 0.939 AC: 9964 AN: 10608

Middle Eastern (MID) AF: 0.888 AC: 261 AN: 294

European-Non Finnish (NFE) AF: 0.948 AC: 64451 AN: 68004

Other (OTH) AF: 0.872 AC: 1846 AN: 2116

Alfa AF: 0.910 Hom.: 7851

Bravo AF: 0.871

Asia WGS AF: 0.769 AC: 2675 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.64
DANN	Benign	0.72
PhyloP100		-0.14

Splicing

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

Other links and lift over

dbSNP: rs7085622; hg19: chr10-113519938;