rs7098387

Variant names:

• chr10-20334544-A-C
• rs7098387

Your query was ambiguous. Multiple possible variants found:

• chr10-20334544-A-C
• chr10-20334544-A-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 0.129 in 151,168 control chromosomes in the GnomAD database, including 1,514 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 0.13 (1514 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0690

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.127 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: 0.129 AC: 19422 AN: 151050 Hom.: 1513 Cov.: 29

Gnomad AFR AF: 0.112

Gnomad AMI AF: 0.195

Gnomad AMR AF: 0.106

Gnomad ASJ AF: 0.0447

Gnomad EAS AF: 0.106

Gnomad SAS AF: 0.0638

Gnomad FIN AF: 0.295

Gnomad MID AF: 0.0380

Gnomad NFE AF: 0.129

Gnomad OTH AF: 0.0927

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

GnomAD4 genome AF: 0.129 AC: 19442 AN: 151168 Hom.: 1514 Cov.: 29 AF XY: 0.135 AC XY: 9927 AN XY: 73784

Gnomad4 AFR AF: 0.112

Gnomad4 AMR AF: 0.106

Gnomad4 ASJ AF: 0.0447

Gnomad4 EAS AF: 0.106

Gnomad4 SAS AF: 0.0634

Gnomad4 FIN AF: 0.295

Gnomad4 NFE AF: 0.129

Gnomad4 OTH AF: 0.0917

Alfa AF: 0.117 Hom.: 1565

Bravo AF: 0.113

Asia WGS AF: 0.0710 AC: 245 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	1.0
DANN	Benign	0.63

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7098387; hg19: chr10-20623473;