rs1034394

Variant names:

• chr22-34427837-A-G
• rs1034394

Your query was ambiguous. Multiple possible variants found:

• chr22-34427837-A-G
• chr22-34427837-A-T

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 0.4 in 152,020 control chromosomes in the GnomAD database, including 12,880 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 0.40 (12880 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.12
• Publications: 8 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 = 0.538 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: 0.400 AC: 60805 AN: 151902 Hom.: 12854 Cov.: 32

Gnomad AFR AF: 0.543

Gnomad AMI AF: 0.288

Gnomad AMR AF: 0.438

Gnomad ASJ AF: 0.407

Gnomad EAS AF: 0.360

Gnomad SAS AF: 0.378

Gnomad FIN AF: 0.343

Gnomad MID AF: 0.399

Gnomad NFE AF: 0.320

Gnomad OTH AF: 0.397

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

GnomAD4 genome AF: 0.400 AC: 60883 AN: 152020 Hom.: 12880 Cov.: 32 AF XY: 0.404 AC XY: 29969 AN XY: 74270

African (AFR) AF: 0.544 AC: 22544 AN: 41470

American (AMR) AF: 0.438 AC: 6694 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.407 AC: 1413 AN: 3468

East Asian (EAS) AF: 0.360 AC: 1856 AN: 5158

South Asian (SAS) AF: 0.378 AC: 1818 AN: 4810

European-Finnish (FIN) AF: 0.343 AC: 3618 AN: 10544

Middle Eastern (MID) AF: 0.395 AC: 116 AN: 294

European-Non Finnish (NFE) AF: 0.320 AC: 21730 AN: 67972

Other (OTH) AF: 0.393 AC: 831 AN: 2114

Alfa AF: 0.352 Hom.: 33291

Bravo AF: 0.415

Asia WGS AF: 0.361 AC: 1254 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.13
DANN	Benign	0.44
PhyloP100		-2.1

Splicing

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

Other links and lift over

dbSNP: rs1034394; hg19: chr22-34823828;