rs4921915

Variant names:

• chr8-18414956-G-A
• rs4921915

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;