rs4527850

chr8-133184606-T-Cchr8-133184606-T-G

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 0.26 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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.185

Gnomad4 AMR AF: 0.227

Gnomad4 ASJ AF: 0.229

Gnomad4 EAS AF: 0.594

Gnomad4 SAS AF: 0.308

Gnomad4 FIN AF: 0.358

Gnomad4 NFE AF: 0.271

Gnomad4 OTH AF: 0.234

Alfa AF: 0.245 Hom.: 2803

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4527850; hg19: chr8-134196849;