rs3133287

Variant names:

• chr8-102618096-G-C
• rs3133287

Your query was ambiguous. Multiple possible variants found:

• chr8-102618096-G-C
• chr8-102618096-G-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 0.172 in 152,030 control chromosomes in the GnomAD database, including 2,351 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 0.17 (2351 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.531
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.64).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.223 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: 0.172 AC: 26161 AN: 151912 Hom.: 2347 Cov.: 31

Gnomad AFR AF: 0.152

Gnomad AMI AF: 0.138

Gnomad AMR AF: 0.229

Gnomad ASJ AF: 0.219

Gnomad EAS AF: 0.157

Gnomad SAS AF: 0.132

Gnomad FIN AF: 0.233

Gnomad MID AF: 0.193

Gnomad NFE AF: 0.164

Gnomad OTH AF: 0.186

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

GnomAD4 genome AF: 0.172 AC: 26174 AN: 152030 Hom.: 2351 Cov.: 31 AF XY: 0.175 AC XY: 13020 AN XY: 74312

African (AFR) AF: 0.152 AC: 6305 AN: 41442

American (AMR) AF: 0.229 AC: 3505 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.219 AC: 759 AN: 3468

East Asian (EAS) AF: 0.157 AC: 815 AN: 5186

South Asian (SAS) AF: 0.131 AC: 633 AN: 4820

European-Finnish (FIN) AF: 0.233 AC: 2453 AN: 10542

Middle Eastern (MID) AF: 0.190 AC: 56 AN: 294

European-Non Finnish (NFE) AF: 0.164 AC: 11136 AN: 67980

Other (OTH) AF: 0.183 AC: 386 AN: 2106

Alfa AF: 0.174 Hom.: 307

Bravo AF: 0.174

Asia WGS AF: 0.149 AC: 516 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.64
CADD	Benign	1.7
DANN	Benign	0.76
PhyloP100		0.53

Splicing

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

Other links and lift over

dbSNP: rs3133287; hg19: chr8-103630324;