rs4757574

Variant names:

• chr11-17704827-A-G
• rs4757574

Your query was ambiguous. Multiple possible variants found:

• chr11-17704827-A-G
• chr11-17704827-A-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 0.705 in 152,152 control chromosomes in the GnomAD database, including 38,733 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 0.70 (38733 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.64
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.94 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.705 AC: 107178 AN: 152032 Hom.: 38710 Cov.: 33

Gnomad AFR AF: 0.541

Gnomad AMI AF: 0.688

Gnomad AMR AF: 0.762

Gnomad ASJ AF: 0.808

Gnomad EAS AF: 0.962

Gnomad SAS AF: 0.769

Gnomad FIN AF: 0.780

Gnomad MID AF: 0.787

Gnomad NFE AF: 0.749

Gnomad OTH AF: 0.739

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

GnomAD4 genome AF: 0.705 AC: 107245 AN: 152152 Hom.: 38733 Cov.: 33 AF XY: 0.710 AC XY: 52816 AN XY: 74376

African (AFR) AF: 0.542 AC: 22466 AN: 41470

American (AMR) AF: 0.762 AC: 11648 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.808 AC: 2805 AN: 3470

East Asian (EAS) AF: 0.962 AC: 4992 AN: 5188

South Asian (SAS) AF: 0.770 AC: 3714 AN: 4826

European-Finnish (FIN) AF: 0.780 AC: 8249 AN: 10582

Middle Eastern (MID) AF: 0.782 AC: 230 AN: 294

European-Non Finnish (NFE) AF: 0.749 AC: 50957 AN: 67998

Other (OTH) AF: 0.736 AC: 1557 AN: 2116

Alfa AF: 0.743 Hom.: 79528

Bravo AF: 0.699

Asia WGS AF: 0.816 AC: 2833 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	10
DANN	Benign	0.57
PhyloP100		1.6

Splicing

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

Other links and lift over

dbSNP: rs4757574; hg19: chr11-17726374;