rs4736702

Positions:

• chr8-133603486-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 0.194 in 152,176 control chromosomes in the GnomAD database, including 2,932 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 0.19 (2932 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0630

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.199 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.194 AC: 29519 AN: 152058 Hom.: 2929 Cov.: 32

Gnomad AFR AF: 0.200

Gnomad AMI AF: 0.319

Gnomad AMR AF: 0.175

Gnomad ASJ AF: 0.244

Gnomad EAS AF: 0.106

Gnomad SAS AF: 0.140

Gnomad FIN AF: 0.182

Gnomad MID AF: 0.320

Gnomad NFE AF: 0.202

Gnomad OTH AF: 0.215

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

GnomAD4 genome AF: 0.194 AC: 29538 AN: 152176 Hom.: 2932 Cov.: 32 AF XY: 0.192 AC XY: 14275 AN XY: 74406

Gnomad4 AFR AF: 0.200

Gnomad4 AMR AF: 0.175

Gnomad4 ASJ AF: 0.244

Gnomad4 EAS AF: 0.106

Gnomad4 SAS AF: 0.142

Gnomad4 FIN AF: 0.182

Gnomad4 NFE AF: 0.202

Gnomad4 OTH AF: 0.212

Alfa AF: 0.195 Hom.: 357

Bravo AF: 0.194

Asia WGS AF: 0.124 AC: 432 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.2
DANN	Benign	0.62

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4736702; hg19: chr8-134615729;