rs6470355

Variant names:

• chr8-125448293-A-G
• rs6470355

Your query was ambiguous. Multiple possible variants found:

• chr8-125448293-A-G
• chr8-125448293-A-T

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 0.273 in 152,076 control chromosomes in the GnomAD database, including 6,572 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 0.27 (6572 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.199

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 = 0.422 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: 0.273 AC: 41511 AN: 151958 Hom.: 6551 Cov.: 32

Gnomad AFR AF: 0.427

Gnomad AMI AF: 0.104

Gnomad AMR AF: 0.334

Gnomad ASJ AF: 0.171

Gnomad EAS AF: 0.0970

Gnomad SAS AF: 0.331

Gnomad FIN AF: 0.172

Gnomad MID AF: 0.196

Gnomad NFE AF: 0.200

Gnomad OTH AF: 0.231

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

GnomAD4 genome AF: 0.273 AC: 41584 AN: 152076 Hom.: 6572 Cov.: 32 AF XY: 0.274 AC XY: 20350 AN XY: 74350

Gnomad4 AFR AF: 0.427

Gnomad4 AMR AF: 0.335

Gnomad4 ASJ AF: 0.171

Gnomad4 EAS AF: 0.0970

Gnomad4 SAS AF: 0.332

Gnomad4 FIN AF: 0.172

Gnomad4 NFE AF: 0.200

Gnomad4 OTH AF: 0.230

Alfa AF: 0.188 Hom.: 646

Bravo AF: 0.287

Asia WGS AF: 0.201 AC: 700 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	7.9
DANN	Benign	0.76

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6470355; hg19: chr8-126460535;