rs11010897

Variant names:

• chr10-36818775-G-A
• rs11010897

Your query was ambiguous. Multiple possible variants found:

• chr10-36818775-G-A
• chr10-36818775-G-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 0.486 in 150,572 control chromosomes in the GnomAD database, including 18,216 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 0.49 (18216 hom., cov: 27)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.308
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.721 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: 0.486 AC: 73153 AN: 150454 Hom.: 18199 Cov.: 27

Gnomad AFR AF: 0.499

Gnomad AMI AF: 0.349

Gnomad AMR AF: 0.518

Gnomad ASJ AF: 0.454

Gnomad EAS AF: 0.740

Gnomad SAS AF: 0.653

Gnomad FIN AF: 0.448

Gnomad MID AF: 0.554

Gnomad NFE AF: 0.450

Gnomad OTH AF: 0.477

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

GnomAD4 genome AF: 0.486 AC: 73195 AN: 150572 Hom.: 18216 Cov.: 27 AF XY: 0.490 AC XY: 36004 AN XY: 73420

African (AFR) AF: 0.498 AC: 20347 AN: 40838

American (AMR) AF: 0.518 AC: 7838 AN: 15130

Ashkenazi Jewish (ASJ) AF: 0.454 AC: 1573 AN: 3462

East Asian (EAS) AF: 0.741 AC: 3767 AN: 5086

South Asian (SAS) AF: 0.654 AC: 3113 AN: 4762

European-Finnish (FIN) AF: 0.448 AC: 4586 AN: 10248

Middle Eastern (MID) AF: 0.541 AC: 159 AN: 294

European-Non Finnish (NFE) AF: 0.450 AC: 30508 AN: 67780

Other (OTH) AF: 0.478 AC: 989 AN: 2070

Alfa AF: 0.343 Hom.: 941

Bravo AF: 0.491

Asia WGS AF: 0.694 AC: 2411 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	5.1
DANN	Benign	0.55
PhyloP100		0.31

Splicing

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

Other links and lift over

dbSNP: rs11010897; hg19: chr10-37107703;