chr8-113861151-A-G

Variant names:

• chr8-113861151-A-G
• rs1912816

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 0.368 in 151,842 control chromosomes in the GnomAD database, including 11,929 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 0.37 (11929 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.665
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.588 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: 0.368 AC: 55790 AN: 151724 Hom.: 11913 Cov.: 32

Gnomad AFR AF: 0.595

Gnomad AMI AF: 0.256

Gnomad AMR AF: 0.346

Gnomad ASJ AF: 0.259

Gnomad EAS AF: 0.241

Gnomad SAS AF: 0.336

Gnomad FIN AF: 0.315

Gnomad MID AF: 0.218

Gnomad NFE AF: 0.263

Gnomad OTH AF: 0.334

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

GnomAD4 genome AF: 0.368 AC: 55845 AN: 151842 Hom.: 11929 Cov.: 32 AF XY: 0.370 AC XY: 27427 AN XY: 74222

African (AFR) AF: 0.594 AC: 24627 AN: 41434

American (AMR) AF: 0.346 AC: 5270 AN: 15242

Ashkenazi Jewish (ASJ) AF: 0.259 AC: 897 AN: 3470

East Asian (EAS) AF: 0.241 AC: 1244 AN: 5166

South Asian (SAS) AF: 0.336 AC: 1619 AN: 4820

European-Finnish (FIN) AF: 0.315 AC: 3302 AN: 10498

Middle Eastern (MID) AF: 0.218 AC: 64 AN: 294

European-Non Finnish (NFE) AF: 0.263 AC: 17884 AN: 67900

Other (OTH) AF: 0.334 AC: 705 AN: 2108

Alfa AF: 0.296 Hom.: 19880

Bravo AF: 0.376

Asia WGS AF: 0.291 AC: 1009 AN: 3446

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.31
DANN	Benign	0.53
PhyloP100		-0.67

Splicing

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

Other links and lift over

dbSNP: rs1912816; hg19: chr8-114873380;