rs4606813

Variant names:

• chr18-76766320-G-A
• rs4606813

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 0.494 in 152,076 control chromosomes in the GnomAD database, including 19,095 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 0.49 (19095 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.524
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.558 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: 0.494 AC: 75098 AN: 151958 Hom.: 19097 Cov.: 33

Gnomad AFR AF: 0.356

Gnomad AMI AF: 0.657

Gnomad AMR AF: 0.551

Gnomad ASJ AF: 0.458

Gnomad EAS AF: 0.436

Gnomad SAS AF: 0.415

Gnomad FIN AF: 0.576

Gnomad MID AF: 0.440

Gnomad NFE AF: 0.563

Gnomad OTH AF: 0.496

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

GnomAD4 genome AF: 0.494 AC: 75122 AN: 152076 Hom.: 19095 Cov.: 33 AF XY: 0.493 AC XY: 36667 AN XY: 74326

African (AFR) AF: 0.356 AC: 14787 AN: 41486

American (AMR) AF: 0.550 AC: 8403 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.458 AC: 1587 AN: 3464

East Asian (EAS) AF: 0.436 AC: 2248 AN: 5154

South Asian (SAS) AF: 0.415 AC: 2003 AN: 4824

European-Finnish (FIN) AF: 0.576 AC: 6082 AN: 10564

Middle Eastern (MID) AF: 0.435 AC: 128 AN: 294

European-Non Finnish (NFE) AF: 0.563 AC: 38247 AN: 67990

Other (OTH) AF: 0.493 AC: 1040 AN: 2110

Alfa AF: 0.535 Hom.: 70978

Bravo AF: 0.491

Asia WGS AF: 0.456 AC: 1589 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.3
DANN	Benign	0.57
PhyloP100		-0.52

Splicing

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

Other links and lift over

dbSNP: rs4606813; hg19: chr18-74478276;