rs4297007

Variant names:

• chr8-127516871-G-A
• rs4297007

Your query was ambiguous. Multiple possible variants found:

• chr8-127516871-G-A
• chr8-127516871-G-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 0.81 in 152,040 control chromosomes in the GnomAD database, including 50,570 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 0.81 (50570 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.06
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.875 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: 0.810 AC: 123121 AN: 151922 Hom.: 50549 Cov.: 32

Gnomad AFR AF: 0.674

Gnomad AMI AF: 0.905

Gnomad AMR AF: 0.842

Gnomad ASJ AF: 0.922

Gnomad EAS AF: 0.766

Gnomad SAS AF: 0.828

Gnomad FIN AF: 0.806

Gnomad MID AF: 0.902

Gnomad NFE AF: 0.881

Gnomad OTH AF: 0.846

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

GnomAD4 genome AF: 0.810 AC: 123186 AN: 152040 Hom.: 50570 Cov.: 32 AF XY: 0.809 AC XY: 60114 AN XY: 74312

African (AFR) AF: 0.674 AC: 27932 AN: 41460

American (AMR) AF: 0.842 AC: 12874 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.922 AC: 3200 AN: 3470

East Asian (EAS) AF: 0.765 AC: 3957 AN: 5170

South Asian (SAS) AF: 0.828 AC: 3990 AN: 4818

European-Finnish (FIN) AF: 0.806 AC: 8471 AN: 10508

Middle Eastern (MID) AF: 0.908 AC: 267 AN: 294

European-Non Finnish (NFE) AF: 0.881 AC: 59898 AN: 68004

Other (OTH) AF: 0.840 AC: 1775 AN: 2112

Alfa AF: 0.861 Hom.: 50136

Bravo AF: 0.806

Asia WGS AF: 0.743 AC: 2588 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.29
DANN	Benign	0.50
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs4297007; hg19: chr8-128529116;