rs6472348

Variant names:

• chr8-67870644-G-A
• rs6472348

Your query was ambiguous. Multiple possible variants found:

• chr8-67870644-G-A
• chr8-67870644-G-C

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 0.544 in 151,896 control chromosomes in the GnomAD database, including 23,080 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 0.54 (23080 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0720
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.631 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: 0.544 AC: 82578 AN: 151778 Hom.: 23063 Cov.: 31

Gnomad AFR AF: 0.433

Gnomad AMI AF: 0.531

Gnomad AMR AF: 0.553

Gnomad ASJ AF: 0.633

Gnomad EAS AF: 0.436

Gnomad SAS AF: 0.651

Gnomad FIN AF: 0.463

Gnomad MID AF: 0.627

Gnomad NFE AF: 0.617

Gnomad OTH AF: 0.567

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

GnomAD4 genome AF: 0.544 AC: 82636 AN: 151896 Hom.: 23080 Cov.: 31 AF XY: 0.540 AC XY: 40111 AN XY: 74238

African (AFR) AF: 0.433 AC: 17944 AN: 41400

American (AMR) AF: 0.553 AC: 8450 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.633 AC: 2196 AN: 3470

East Asian (EAS) AF: 0.435 AC: 2232 AN: 5128

South Asian (SAS) AF: 0.650 AC: 3124 AN: 4806

European-Finnish (FIN) AF: 0.463 AC: 4890 AN: 10554

Middle Eastern (MID) AF: 0.629 AC: 185 AN: 294

European-Non Finnish (NFE) AF: 0.617 AC: 41933 AN: 67944

Other (OTH) AF: 0.567 AC: 1198 AN: 2114

Alfa AF: 0.576 Hom.: 16257

Bravo AF: 0.544

Asia WGS AF: 0.554 AC: 1928 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	2.5
DANN	Benign	0.25
PhyloP100		-0.072

Splicing

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

Other links and lift over

dbSNP: rs6472348; hg19: chr8-68782879;