rs6818288

Variant names:

• chr4-30066591-A-C
• rs6818288

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 0.232 in 151,896 control chromosomes in the GnomAD database, including 6,088 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 0.23 (6088 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.589

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 (AFR) allele frequency at 95% confidence interval = 0.49 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: 0.232 AC: 35140 AN: 151778 Hom.: 6066 Cov.: 32

Gnomad AFR AF: 0.496

Gnomad AMI AF: 0.103

Gnomad AMR AF: 0.150

Gnomad ASJ AF: 0.120

Gnomad EAS AF: 0.0763

Gnomad SAS AF: 0.103

Gnomad FIN AF: 0.0893

Gnomad MID AF: 0.193

Gnomad NFE AF: 0.140

Gnomad OTH AF: 0.218

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

GnomAD4 genome AF: 0.232 AC: 35206 AN: 151896 Hom.: 6088 Cov.: 32 AF XY: 0.223 AC XY: 16545 AN XY: 74236

Gnomad4 AFR AF: 0.496

Gnomad4 AMR AF: 0.150

Gnomad4 ASJ AF: 0.120

Gnomad4 EAS AF: 0.0762

Gnomad4 SAS AF: 0.103

Gnomad4 FIN AF: 0.0893

Gnomad4 NFE AF: 0.140

Gnomad4 OTH AF: 0.216

Alfa AF: 0.165 Hom.: 1243

Bravo AF: 0.250

Asia WGS AF: 0.116 AC: 406 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.65
DANN	Benign	0.53

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6818288; hg19: chr4-30068213;