rs4281084

Variant names:

• chr8-31637858-G-A
• rs4281084

Your query was ambiguous. Multiple possible variants found:

• chr8-31637858-G-A
• chr8-31637858-G-C

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 0.226 in 152,028 control chromosomes in the GnomAD database, including 3,937 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 0.23 (3937 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.535
• Publications: 14 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.303 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: 0.226 AC: 34284 AN: 151910 Hom.: 3930 Cov.: 32

Gnomad AFR AF: 0.199

Gnomad AMI AF: 0.309

Gnomad AMR AF: 0.252

Gnomad ASJ AF: 0.202

Gnomad EAS AF: 0.316

Gnomad SAS AF: 0.232

Gnomad FIN AF: 0.214

Gnomad MID AF: 0.196

Gnomad NFE AF: 0.231

Gnomad OTH AF: 0.225

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

GnomAD4 genome AF: 0.226 AC: 34302 AN: 152028 Hom.: 3937 Cov.: 32 AF XY: 0.226 AC XY: 16792 AN XY: 74304

African (AFR) AF: 0.198 AC: 8221 AN: 41440

American (AMR) AF: 0.252 AC: 3855 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.202 AC: 700 AN: 3468

East Asian (EAS) AF: 0.315 AC: 1623 AN: 5148

South Asian (SAS) AF: 0.233 AC: 1119 AN: 4810

European-Finnish (FIN) AF: 0.214 AC: 2263 AN: 10576

Middle Eastern (MID) AF: 0.187 AC: 55 AN: 294

European-Non Finnish (NFE) AF: 0.231 AC: 15707 AN: 67984

Other (OTH) AF: 0.226 AC: 477 AN: 2112

Alfa AF: 0.231 Hom.: 18670

Bravo AF: 0.226

Asia WGS AF: 0.283 AC: 986 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	0.89
DANN	Benign	0.40
PhyloP100		-0.54

Splicing

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

Other links and lift over

dbSNP: rs4281084; hg19: chr8-31495374;