rs6601328

Variant names:

• chr8-9545693-G-A
• rs6601328

Your query was ambiguous. Multiple possible variants found:

• chr8-9545693-G-A
• chr8-9545693-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 0.838 in 152,236 control chromosomes in the GnomAD database, including 53,806 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 0.84 (53806 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.336
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.71).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.885 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: 0.838 AC: 127431 AN: 152118 Hom.: 53771 Cov.: 34

Gnomad AFR AF: 0.763

Gnomad AMI AF: 0.901

Gnomad AMR AF: 0.751

Gnomad ASJ AF: 0.918

Gnomad EAS AF: 0.750

Gnomad SAS AF: 0.860

Gnomad FIN AF: 0.912

Gnomad MID AF: 0.880

Gnomad NFE AF: 0.891

Gnomad OTH AF: 0.845

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

GnomAD4 genome AF: 0.838 AC: 127524 AN: 152236 Hom.: 53806 Cov.: 34 AF XY: 0.838 AC XY: 62346 AN XY: 74430

African (AFR) AF: 0.763 AC: 31657 AN: 41512

American (AMR) AF: 0.751 AC: 11494 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.918 AC: 3187 AN: 3472

East Asian (EAS) AF: 0.750 AC: 3884 AN: 5182

South Asian (SAS) AF: 0.861 AC: 4154 AN: 4826

European-Finnish (FIN) AF: 0.912 AC: 9680 AN: 10610

Middle Eastern (MID) AF: 0.878 AC: 258 AN: 294

European-Non Finnish (NFE) AF: 0.891 AC: 60606 AN: 68020

Other (OTH) AF: 0.845 AC: 1784 AN: 2112

Alfa AF: 0.871 Hom.: 17716

Bravo AF: 0.818

Asia WGS AF: 0.827 AC: 2876 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.71
CADD	Benign	5.0
DANN	Benign	0.71
PhyloP100		0.34

Splicing

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

Other links and lift over

dbSNP: rs6601328; hg19: chr8-9403203;