rs574545

Variant names:

• chr6-94128228-C-G
• rs574545

Your query was ambiguous. Multiple possible variants found:

• chr6-94128228-C-G
• chr6-94128228-C-T

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 0.428 in 151,134 control chromosomes in the GnomAD database, including 14,258 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 0.43 (14258 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0170
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.442 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: 0.428 AC: 64568 AN: 151014 Hom.: 14252 Cov.: 31

Gnomad AFR AF: 0.422

Gnomad AMI AF: 0.700

Gnomad AMR AF: 0.410

Gnomad ASJ AF: 0.498

Gnomad EAS AF: 0.102

Gnomad SAS AF: 0.378

Gnomad FIN AF: 0.485

Gnomad MID AF: 0.557

Gnomad NFE AF: 0.446

Gnomad OTH AF: 0.434

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

GnomAD4 genome AF: 0.428 AC: 64616 AN: 151134 Hom.: 14258 Cov.: 31 AF XY: 0.426 AC XY: 31408 AN XY: 73788

African (AFR) AF: 0.422 AC: 17430 AN: 41314

American (AMR) AF: 0.409 AC: 6173 AN: 15086

Ashkenazi Jewish (ASJ) AF: 0.498 AC: 1723 AN: 3462

East Asian (EAS) AF: 0.103 AC: 521 AN: 5078

South Asian (SAS) AF: 0.378 AC: 1812 AN: 4792

European-Finnish (FIN) AF: 0.485 AC: 5099 AN: 10510

Middle Eastern (MID) AF: 0.548 AC: 161 AN: 294

European-Non Finnish (NFE) AF: 0.446 AC: 30151 AN: 67594

Other (OTH) AF: 0.435 AC: 912 AN: 2098

Alfa AF: 0.299 Hom.: 748

Bravo AF: 0.420

Asia WGS AF: 0.256 AC: 894 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	6.6
DANN	Benign	0.45
PhyloP100		-0.017

Splicing

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

Other links and lift over

dbSNP: rs574545; hg19: chr6-94837946;