10-35771381-A-G

Variant names:

• chr10-35771381-A-G
• rs11010290

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 0.122 in 152,084 control chromosomes in the GnomAD database, including 1,476 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 0.12 (1476 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.120

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.217 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: 0.123 AC: 18632 AN: 151966 Hom.: 1477 Cov.: 32

Gnomad AFR AF: 0.0394

Gnomad AMI AF: 0.0758

Gnomad AMR AF: 0.0924

Gnomad ASJ AF: 0.135

Gnomad EAS AF: 0.0545

Gnomad SAS AF: 0.229

Gnomad FIN AF: 0.220

Gnomad MID AF: 0.0981

Gnomad NFE AF: 0.164

Gnomad OTH AF: 0.0906

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

GnomAD4 genome AF: 0.122 AC: 18630 AN: 152084 Hom.: 1476 Cov.: 32 AF XY: 0.127 AC XY: 9455 AN XY: 74354

Gnomad4 AFR AF: 0.0393

Gnomad4 AMR AF: 0.0922

Gnomad4 ASJ AF: 0.135

Gnomad4 EAS AF: 0.0543

Gnomad4 SAS AF: 0.228

Gnomad4 FIN AF: 0.220

Gnomad4 NFE AF: 0.164

Gnomad4 OTH AF: 0.0925

Alfa AF: 0.129 Hom.: 801

Bravo AF: 0.105

Asia WGS AF: 0.176 AC: 610 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	3.8
DANN	Benign	0.56

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11010290; hg19: chr10-36060309;