rs35706870

Variant names:

• chr10-67883859-A-C
• rs35706870

Your query was ambiguous. Multiple possible variants found:

• chr10-67883859-A-C
• chr10-67883859-A-G

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 0.0935 in 152,288 control chromosomes in the GnomAD database, including 868 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 0.094 (868 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 3.07
• Publications: 11 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.16 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: 0.0936 AC: 14244 AN: 152170 Hom.: 866 Cov.: 33

Gnomad AFR AF: 0.0309

Gnomad AMI AF: 0.302

Gnomad AMR AF: 0.0781

Gnomad ASJ AF: 0.129

Gnomad EAS AF: 0.000961

Gnomad SAS AF: 0.169

Gnomad FIN AF: 0.119

Gnomad MID AF: 0.184

Gnomad NFE AF: 0.127

Gnomad OTH AF: 0.111

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

GnomAD4 genome AF: 0.0935 AC: 14243 AN: 152288 Hom.: 868 Cov.: 33 AF XY: 0.0932 AC XY: 6938 AN XY: 74464

African (AFR) AF: 0.0309 AC: 1286 AN: 41594

American (AMR) AF: 0.0780 AC: 1192 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.129 AC: 449 AN: 3468

East Asian (EAS) AF: 0.000963 AC: 5 AN: 5192

South Asian (SAS) AF: 0.170 AC: 819 AN: 4828

European-Finnish (FIN) AF: 0.119 AC: 1267 AN: 10606

Middle Eastern (MID) AF: 0.177 AC: 52 AN: 294

European-Non Finnish (NFE) AF: 0.127 AC: 8665 AN: 67998

Other (OTH) AF: 0.110 AC: 233 AN: 2112

Alfa AF: 0.0336 Hom.: 41

Bravo AF: 0.0870

Asia WGS AF: 0.0750 AC: 261 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	6.9
DANN	Benign	0.53
PhyloP100		3.1

Splicing

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

Other links and lift over

dbSNP: rs35706870; hg19: chr10-69643617;