rs8141914

Variant names:

• chr22-34483238-G-A
• rs8141914

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 0.143 in 152,154 control chromosomes in the GnomAD database, including 2,377 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 0.14 (2377 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0980

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.296 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: 0.142 AC: 21653 AN: 152036 Hom.: 2371 Cov.: 33

Gnomad AFR AF: 0.301

Gnomad AMI AF: 0.0702

Gnomad AMR AF: 0.0728

Gnomad ASJ AF: 0.0885

Gnomad EAS AF: 0.000386

Gnomad SAS AF: 0.0292

Gnomad FIN AF: 0.117

Gnomad MID AF: 0.101

Gnomad NFE AF: 0.0893

Gnomad OTH AF: 0.118

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

GnomAD4 genome AF: 0.143 AC: 21683 AN: 152154 Hom.: 2377 Cov.: 33 AF XY: 0.137 AC XY: 10227 AN XY: 74386

Gnomad4 AFR AF: 0.301

Gnomad4 AMR AF: 0.0727

Gnomad4 ASJ AF: 0.0885

Gnomad4 EAS AF: 0.000387

Gnomad4 SAS AF: 0.0292

Gnomad4 FIN AF: 0.117

Gnomad4 NFE AF: 0.0893

Gnomad4 OTH AF: 0.117

Alfa AF: 0.0981 Hom.: 508

Bravo AF: 0.148

Asia WGS AF: 0.0350 AC: 121 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.5
DANN	Benign	0.49

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8141914; hg19: chr22-34879230;