8-5111892-G-A

Variant names:

• chr8-5111892-G-A
• rs11786333

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 0.0953 in 151,780 control chromosomes in the GnomAD database, including 696 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 0.095 (696 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.104
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.112 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.0954 AC: 14461 AN: 151662 Hom.: 695 Cov.: 31

Gnomad AFR AF: 0.0809

Gnomad AMI AF: 0.0844

Gnomad AMR AF: 0.0786

Gnomad ASJ AF: 0.118

Gnomad EAS AF: 0.0182

Gnomad SAS AF: 0.0949

Gnomad FIN AF: 0.0840

Gnomad MID AF: 0.0860

Gnomad NFE AF: 0.114

Gnomad OTH AF: 0.0981

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

GnomAD4 genome AF: 0.0953 AC: 14471 AN: 151780 Hom.: 696 Cov.: 31 AF XY: 0.0929 AC XY: 6891 AN XY: 74168

African (AFR) AF: 0.0810 AC: 3342 AN: 41274

American (AMR) AF: 0.0785 AC: 1198 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.118 AC: 408 AN: 3466

East Asian (EAS) AF: 0.0183 AC: 94 AN: 5148

South Asian (SAS) AF: 0.0946 AC: 455 AN: 4812

European-Finnish (FIN) AF: 0.0840 AC: 887 AN: 10558

Middle Eastern (MID) AF: 0.0856 AC: 25 AN: 292

European-Non Finnish (NFE) AF: 0.114 AC: 7777 AN: 67960

Other (OTH) AF: 0.0990 AC: 208 AN: 2102

Alfa AF: 0.107 Hom.: 1458

Bravo AF: 0.0998

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.93
DANN	Benign	0.83
PhyloP100		0.10

Splicing

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

Other links and lift over

dbSNP: rs11786333; hg19: chr8-4969414;