rs10740308

Variant names:

• chr10-68695139-A-C
• rs10740308

Your query was ambiguous. Multiple possible variants found:

• chr10-68695139-A-C
• chr10-68695139-A-G
• chr10-68695139-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 0.776 in 152,036 control chromosomes in the GnomAD database, including 46,168 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 0.78 (46168 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.83
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.72).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.822 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: 0.776 AC: 117889 AN: 151918 Hom.: 46150 Cov.: 32

Gnomad AFR AF: 0.665

Gnomad AMI AF: 0.911

Gnomad AMR AF: 0.782

Gnomad ASJ AF: 0.867

Gnomad EAS AF: 0.843

Gnomad SAS AF: 0.769

Gnomad FIN AF: 0.804

Gnomad MID AF: 0.820

Gnomad NFE AF: 0.826

Gnomad OTH AF: 0.796

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

GnomAD4 genome AF: 0.776 AC: 117951 AN: 152036 Hom.: 46168 Cov.: 32 AF XY: 0.775 AC XY: 57581 AN XY: 74298

African (AFR) AF: 0.665 AC: 27561 AN: 41460

American (AMR) AF: 0.781 AC: 11924 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.867 AC: 3009 AN: 3470

East Asian (EAS) AF: 0.842 AC: 4359 AN: 5174

South Asian (SAS) AF: 0.770 AC: 3706 AN: 4812

European-Finnish (FIN) AF: 0.804 AC: 8486 AN: 10550

Middle Eastern (MID) AF: 0.799 AC: 235 AN: 294

European-Non Finnish (NFE) AF: 0.826 AC: 56163 AN: 67992

Other (OTH) AF: 0.796 AC: 1677 AN: 2108

Alfa AF: 0.807 Hom.: 60095

Bravo AF: 0.769

Asia WGS AF: 0.758 AC: 2635 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.72
CADD	Benign	8.0
DANN	Benign	0.79
PhyloP100		1.8

Splicing

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

Other links and lift over

dbSNP: rs10740308; hg19: chr10-70454896;