rs11861787

Variant names:

• chr16-8467743-A-C
• rs11861787

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 0.255 in 152,070 control chromosomes in the GnomAD database, including 5,127 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 0.26 (5127 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.07
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.47).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.259 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: 0.256 AC: 38835 AN: 151952 Hom.: 5125 Cov.: 32

Gnomad AFR AF: 0.257

Gnomad AMI AF: 0.204

Gnomad AMR AF: 0.191

Gnomad ASJ AF: 0.244

Gnomad EAS AF: 0.213

Gnomad SAS AF: 0.198

Gnomad FIN AF: 0.366

Gnomad MID AF: 0.158

Gnomad NFE AF: 0.262

Gnomad OTH AF: 0.229

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

GnomAD4 genome AF: 0.255 AC: 38844 AN: 152070 Hom.: 5127 Cov.: 32 AF XY: 0.257 AC XY: 19132 AN XY: 74340

African (AFR) AF: 0.256 AC: 10624 AN: 41460

American (AMR) AF: 0.191 AC: 2917 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.244 AC: 848 AN: 3472

East Asian (EAS) AF: 0.214 AC: 1102 AN: 5158

South Asian (SAS) AF: 0.198 AC: 954 AN: 4822

European-Finnish (FIN) AF: 0.366 AC: 3874 AN: 10582

Middle Eastern (MID) AF: 0.160 AC: 47 AN: 294

European-Non Finnish (NFE) AF: 0.262 AC: 17812 AN: 67972

Other (OTH) AF: 0.227 AC: 480 AN: 2110

Alfa AF: 0.273 Hom.: 714

Bravo AF: 0.241

Asia WGS AF: 0.198 AC: 692 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.47
CADD	Benign	14
DANN	Benign	0.78
PhyloP100		1.1

Splicing

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

Other links and lift over

dbSNP: rs11861787; hg19: chr16-8517745;