rs4921915

chr8-18414956-G-A

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 0.709 in 151,960 control chromosomes in the GnomAD database, including 38,761 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 0.71 (38761 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.326

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.768 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: 0.709 AC: 107661 AN: 151842 Hom.: 38758 Cov.: 32

Gnomad AFR AF: 0.622

Gnomad AMI AF: 0.719

Gnomad AMR AF: 0.662

Gnomad ASJ AF: 0.832

Gnomad EAS AF: 0.460

Gnomad SAS AF: 0.775

Gnomad FIN AF: 0.746

Gnomad MID AF: 0.788

Gnomad NFE AF: 0.774

Gnomad OTH AF: 0.731

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

GnomAD4 genome AF: 0.709 AC: 107707 AN: 151960 Hom.: 38761 Cov.: 32 AF XY: 0.706 AC XY: 52420 AN XY: 74244

Gnomad4 AFR AF: 0.621

Gnomad4 AMR AF: 0.662

Gnomad4 ASJ AF: 0.832

Gnomad4 EAS AF: 0.460

Gnomad4 SAS AF: 0.774

Gnomad4 FIN AF: 0.746

Gnomad4 NFE AF: 0.774

Gnomad4 OTH AF: 0.728

Alfa AF: 0.747 Hom.: 5310

Bravo AF: 0.694

Asia WGS AF: 0.626 AC: 2177 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
Cadd	Benign	0.70
Dann	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4921915; hg19: chr8-18272466;