rs10811505

Variant names:

• chr9-21208724-A-C
• rs10811505

Your query was ambiguous. Multiple possible variants found:

• chr9-21208724-A-C
• chr9-21208724-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 0.281 in 151,634 control chromosomes in the GnomAD database, including 6,718 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 0.28 (6718 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.330
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.498 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: 0.281 AC: 42628 AN: 151516 Hom.: 6710 Cov.: 31

Gnomad AFR AF: 0.380

Gnomad AMI AF: 0.169

Gnomad AMR AF: 0.311

Gnomad ASJ AF: 0.241

Gnomad EAS AF: 0.515

Gnomad SAS AF: 0.199

Gnomad FIN AF: 0.214

Gnomad MID AF: 0.236

Gnomad NFE AF: 0.217

Gnomad OTH AF: 0.270

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

GnomAD4 genome AF: 0.281 AC: 42679 AN: 151634 Hom.: 6718 Cov.: 31 AF XY: 0.281 AC XY: 20810 AN XY: 74098

African (AFR) AF: 0.380 AC: 15677 AN: 41212

American (AMR) AF: 0.311 AC: 4745 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.241 AC: 835 AN: 3464

East Asian (EAS) AF: 0.515 AC: 2656 AN: 5162

South Asian (SAS) AF: 0.201 AC: 969 AN: 4824

European-Finnish (FIN) AF: 0.214 AC: 2242 AN: 10490

Middle Eastern (MID) AF: 0.236 AC: 69 AN: 292

European-Non Finnish (NFE) AF: 0.217 AC: 14765 AN: 67920

Other (OTH) AF: 0.269 AC: 568 AN: 2108

Alfa AF: 0.257 Hom.: 673

Bravo AF: 0.296

Asia WGS AF: 0.339 AC: 1177 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.2
DANN	Benign	0.35
PhyloP100		-0.33

Splicing

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

Other links and lift over

dbSNP: rs10811505; hg19: chr9-21208723;