rs4738350

Positions:

• chr8-73403833-G-A

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 0.0691 in 152,230 control chromosomes in the GnomAD database, including 641 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 0.069 (641 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.301

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 (AMR) allele frequency at 95% confidence interval = 0.144 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: 0.0688 AC: 10466 AN: 152112 Hom.: 631 Cov.: 32

Gnomad AFR AF: 0.137

Gnomad AMI AF: 0.0143

Gnomad AMR AF: 0.149

Gnomad ASJ AF: 0.0112

Gnomad EAS AF: 0.0189

Gnomad SAS AF: 0.00621

Gnomad FIN AF: 0.0382

Gnomad MID AF: 0.0443

Gnomad NFE AF: 0.0265

Gnomad OTH AF: 0.0511

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

GnomAD4 genome AF: 0.0691 AC: 10512 AN: 152230 Hom.: 641 Cov.: 32 AF XY: 0.0702 AC XY: 5225 AN XY: 74428

Gnomad4 AFR AF: 0.138

Gnomad4 AMR AF: 0.149

Gnomad4 ASJ AF: 0.0112

Gnomad4 EAS AF: 0.0187

Gnomad4 SAS AF: 0.00643

Gnomad4 FIN AF: 0.0382

Gnomad4 NFE AF: 0.0265

Gnomad4 OTH AF: 0.0506

Alfa AF: 0.0417 Hom.: 259

Bravo AF: 0.0798

Asia WGS AF: 0.0340 AC: 117 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	0.054
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: rs4738350; hg19: chr8-74316068;