rs11986942

Variant names:

• chr8-20009934-C-G
• rs11986942

Your query was ambiguous. Multiple possible variants found:

• chr8-20009934-C-G
• chr8-20009934-C-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 0.4 in 151,882 control chromosomes in the GnomAD database, including 14,052 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 0.40 (14052 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.505
• Publications: 19 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.641 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: 0.400 AC: 60659 AN: 151764 Hom.: 14022 Cov.: 31

Gnomad AFR AF: 0.648

Gnomad AMI AF: 0.414

Gnomad AMR AF: 0.322

Gnomad ASJ AF: 0.409

Gnomad EAS AF: 0.207

Gnomad SAS AF: 0.282

Gnomad FIN AF: 0.262

Gnomad MID AF: 0.399

Gnomad NFE AF: 0.311

Gnomad OTH AF: 0.380

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

GnomAD4 genome AF: 0.400 AC: 60739 AN: 151882 Hom.: 14052 Cov.: 31 AF XY: 0.393 AC XY: 29162 AN XY: 74226

African (AFR) AF: 0.648 AC: 26836 AN: 41422

American (AMR) AF: 0.321 AC: 4901 AN: 15246

Ashkenazi Jewish (ASJ) AF: 0.409 AC: 1421 AN: 3472

East Asian (EAS) AF: 0.207 AC: 1065 AN: 5146

South Asian (SAS) AF: 0.282 AC: 1361 AN: 4822

European-Finnish (FIN) AF: 0.262 AC: 2752 AN: 10522

Middle Eastern (MID) AF: 0.391 AC: 115 AN: 294

European-Non Finnish (NFE) AF: 0.311 AC: 21109 AN: 67936

Other (OTH) AF: 0.380 AC: 801 AN: 2110

Alfa AF: 0.180 Hom.: 313

Bravo AF: 0.413

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.45
DANN	Benign	0.22
PhyloP100		-0.51

Splicing

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

Other links and lift over

dbSNP: rs11986942; hg19: chr8-19867445;