rs4281084

chr8-31637858-G-Achr8-31637858-G-C

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 0.226 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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.198

Gnomad4 AMR AF: 0.252

Gnomad4 ASJ AF: 0.202

Gnomad4 EAS AF: 0.315

Gnomad4 SAS AF: 0.233

Gnomad4 FIN AF: 0.214

Gnomad4 NFE AF: 0.231

Gnomad4 OTH AF: 0.226

Alfa AF: 0.230 Hom.: 8595

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4281084; hg19: chr8-31495374;