rs1912816

chr8-113861151-A-G

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 0.368 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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.594

Gnomad4 AMR AF: 0.346

Gnomad4 ASJ AF: 0.259

Gnomad4 EAS AF: 0.241

Gnomad4 SAS AF: 0.336

Gnomad4 FIN AF: 0.315

Gnomad4 NFE AF: 0.263

Gnomad4 OTH AF: 0.334

Alfa AF: 0.277 Hom.: 10401

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1912816; hg19: chr8-114873380;