rs6468284

Variant names:

• chr8-30314751-T-C
• rs6468284

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 0.248 in 152,034 control chromosomes in the GnomAD database, including 5,135 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 0.25 (5135 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.69

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.5).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.402 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: 0.248 AC: 37701 AN: 151916 Hom.: 5128 Cov.: 32

Gnomad AFR AF: 0.167

Gnomad AMI AF: 0.260

Gnomad AMR AF: 0.366

Gnomad ASJ AF: 0.369

Gnomad EAS AF: 0.417

Gnomad SAS AF: 0.238

Gnomad FIN AF: 0.220

Gnomad MID AF: 0.351

Gnomad NFE AF: 0.255

Gnomad OTH AF: 0.277

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

GnomAD4 genome AF: 0.248 AC: 37712 AN: 152034 Hom.: 5135 Cov.: 32 AF XY: 0.250 AC XY: 18554 AN XY: 74306

Gnomad4 AFR AF: 0.167

Gnomad4 AMR AF: 0.366

Gnomad4 ASJ AF: 0.369

Gnomad4 EAS AF: 0.417

Gnomad4 SAS AF: 0.236

Gnomad4 FIN AF: 0.220

Gnomad4 NFE AF: 0.256

Gnomad4 OTH AF: 0.280

Alfa AF: 0.260 Hom.: 1282

Bravo AF: 0.259

Asia WGS AF: 0.306 AC: 1063 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.50
CADD	Benign	15
DANN	Benign	0.70

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6468284; hg19: chr8-30172267;