rs4527850

Variant names:

• chr8-133184606-T-C
• rs4527850

Your query was ambiguous. Multiple possible variants found:

• chr8-133184606-T-C
• chr8-133184606-T-G

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 0.26 in 152,134 control chromosomes in the GnomAD database, including 5,674 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 0.26 (5674 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.80
• Publications: 19 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.577 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: 0.260 AC: 39487 AN: 152016 Hom.: 5679 Cov.: 32

Gnomad AFR AF: 0.185

Gnomad AMI AF: 0.184

Gnomad AMR AF: 0.227

Gnomad ASJ AF: 0.229

Gnomad EAS AF: 0.595

Gnomad SAS AF: 0.309

Gnomad FIN AF: 0.358

Gnomad MID AF: 0.285

Gnomad NFE AF: 0.271

Gnomad OTH AF: 0.234

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

GnomAD4 genome AF: 0.260 AC: 39490 AN: 152134 Hom.: 5674 Cov.: 32 AF XY: 0.266 AC XY: 19744 AN XY: 74348

African (AFR) AF: 0.185 AC: 7703 AN: 41538

American (AMR) AF: 0.227 AC: 3475 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.229 AC: 794 AN: 3470

East Asian (EAS) AF: 0.594 AC: 3063 AN: 5154

South Asian (SAS) AF: 0.308 AC: 1485 AN: 4822

European-Finnish (FIN) AF: 0.358 AC: 3788 AN: 10568

Middle Eastern (MID) AF: 0.276 AC: 81 AN: 294

European-Non Finnish (NFE) AF: 0.271 AC: 18439 AN: 67972

Other (OTH) AF: 0.234 AC: 495 AN: 2112

Alfa AF: 0.268 Hom.: 12689

Bravo AF: 0.247

Asia WGS AF: 0.401 AC: 1391 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.16
DANN	Benign	0.36
PhyloP100		-1.8

Splicing

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

Other links and lift over

dbSNP: rs4527850; hg19: chr8-134196849;