rs6818288

Variant names:

• chr4-30066591-A-C
• rs6818288

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 0.232 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
• Publications: 5 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.496 AC: 20541 AN: 41412

American (AMR) AF: 0.150 AC: 2291 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.120 AC: 418 AN: 3472

East Asian (EAS) AF: 0.0762 AC: 394 AN: 5168

South Asian (SAS) AF: 0.103 AC: 497 AN: 4826

European-Finnish (FIN) AF: 0.0893 AC: 946 AN: 10592

Middle Eastern (MID) AF: 0.187 AC: 55 AN: 294

European-Non Finnish (NFE) AF: 0.140 AC: 9515 AN: 67844

Other (OTH) AF: 0.216 AC: 455 AN: 2108

Alfa AF: 0.220 Hom.: 4006

Bravo AF: 0.250

Asia WGS AF: 0.116 AC: 406 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.65
DANN	Benign	0.53
PhyloP100		-0.59

Splicing

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

Other links and lift over

dbSNP: rs6818288; hg19: chr4-30068213;