rs11781551

Variant names:

• chr8-122395852-G-A
• rs11781551

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 0.394 in 151,704 control chromosomes in the GnomAD database, including 12,285 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 0.39 (12285 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0450
• Publications: 31 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.04).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.46 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: 0.394 AC: 59699 AN: 151588 Hom.: 12279 Cov.: 31

Gnomad AFR AF: 0.308

Gnomad AMI AF: 0.361

Gnomad AMR AF: 0.381

Gnomad ASJ AF: 0.371

Gnomad EAS AF: 0.152

Gnomad SAS AF: 0.368

Gnomad FIN AF: 0.435

Gnomad MID AF: 0.433

Gnomad NFE AF: 0.464

Gnomad OTH AF: 0.403

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

GnomAD4 genome AF: 0.394 AC: 59727 AN: 151704 Hom.: 12285 Cov.: 31 AF XY: 0.391 AC XY: 28993 AN XY: 74102

African (AFR) AF: 0.308 AC: 12738 AN: 41408

American (AMR) AF: 0.380 AC: 5781 AN: 15216

Ashkenazi Jewish (ASJ) AF: 0.371 AC: 1289 AN: 3470

East Asian (EAS) AF: 0.153 AC: 782 AN: 5126

South Asian (SAS) AF: 0.369 AC: 1776 AN: 4810

European-Finnish (FIN) AF: 0.435 AC: 4585 AN: 10544

Middle Eastern (MID) AF: 0.442 AC: 129 AN: 292

European-Non Finnish (NFE) AF: 0.464 AC: 31473 AN: 67822

Other (OTH) AF: 0.402 AC: 845 AN: 2104

Alfa AF: 0.385 Hom.: 6742

Bravo AF: 0.384

Asia WGS AF: 0.288 AC: 1001 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.4
DANN	Benign	0.57
PhyloP100		0.045

Splicing

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

Other links and lift over

dbSNP: rs11781551; hg19: chr8-123408091;