rs11135740

Variant names:

• chr8-23510244-G-A
• rs11135740

Your query was ambiguous. Multiple possible variants found:

• chr8-23510244-G-A
• chr8-23510244-G-C

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 0.25 in 152,078 control chromosomes in the GnomAD database, including 5,205 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 0.25 (5205 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.00200
• Publications: 13 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.414 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: 0.250 AC: 38006 AN: 151960 Hom.: 5188 Cov.: 32

Gnomad AFR AF: 0.282

Gnomad AMI AF: 0.295

Gnomad AMR AF: 0.364

Gnomad ASJ AF: 0.209

Gnomad EAS AF: 0.429

Gnomad SAS AF: 0.325

Gnomad FIN AF: 0.170

Gnomad MID AF: 0.222

Gnomad NFE AF: 0.200

Gnomad OTH AF: 0.257

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

GnomAD4 genome AF: 0.250 AC: 38082 AN: 152078 Hom.: 5205 Cov.: 32 AF XY: 0.255 AC XY: 18932 AN XY: 74334

African (AFR) AF: 0.282 AC: 11710 AN: 41484

American (AMR) AF: 0.365 AC: 5574 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.209 AC: 724 AN: 3472

East Asian (EAS) AF: 0.429 AC: 2212 AN: 5158

South Asian (SAS) AF: 0.327 AC: 1577 AN: 4822

European-Finnish (FIN) AF: 0.170 AC: 1806 AN: 10598

Middle Eastern (MID) AF: 0.214 AC: 63 AN: 294

European-Non Finnish (NFE) AF: 0.200 AC: 13603 AN: 67964

Other (OTH) AF: 0.258 AC: 545 AN: 2110

Alfa AF: 0.217 Hom.: 16417

Bravo AF: 0.266

Asia WGS AF: 0.354 AC: 1230 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	0.88
DANN	Benign	0.75
PhyloP100		-0.0020

Splicing

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

Other links and lift over

dbSNP: rs11135740; hg19: chr8-23367757;