rs11781551

chr8-122395852-G-A

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 0.394 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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.308

Gnomad4 AMR AF: 0.380

Gnomad4 ASJ AF: 0.371

Gnomad4 EAS AF: 0.153

Gnomad4 SAS AF: 0.369

Gnomad4 FIN AF: 0.435

Gnomad4 NFE AF: 0.464

Gnomad4 OTH AF: 0.402

Alfa AF: 0.413 Hom.: 2175

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11781551; hg19: chr8-123408091;