rs6974363

Variant names:

• chr7-47593589-A-G
• rs6974363

Your query was ambiguous. Multiple possible variants found:

• chr7-47593589-A-G
• chr7-47593589-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 0.656 in 151,894 control chromosomes in the GnomAD database, including 32,940 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 0.66 (32940 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.157
• Publications: 6 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 = 0.801 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.656 AC: 99585 AN: 151776 Hom.: 32902 Cov.: 31

Gnomad AFR AF: 0.662

Gnomad AMI AF: 0.661

Gnomad AMR AF: 0.637

Gnomad ASJ AF: 0.607

Gnomad EAS AF: 0.823

Gnomad SAS AF: 0.789

Gnomad FIN AF: 0.684

Gnomad MID AF: 0.529

Gnomad NFE AF: 0.634

Gnomad OTH AF: 0.627

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

GnomAD4 genome AF: 0.656 AC: 99676 AN: 151894 Hom.: 32940 Cov.: 31 AF XY: 0.663 AC XY: 49214 AN XY: 74236

African (AFR) AF: 0.662 AC: 27443 AN: 41428

American (AMR) AF: 0.638 AC: 9728 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.607 AC: 2105 AN: 3468

East Asian (EAS) AF: 0.822 AC: 4229 AN: 5144

South Asian (SAS) AF: 0.790 AC: 3794 AN: 4802

European-Finnish (FIN) AF: 0.684 AC: 7211 AN: 10538

Middle Eastern (MID) AF: 0.521 AC: 152 AN: 292

European-Non Finnish (NFE) AF: 0.634 AC: 43098 AN: 67954

Other (OTH) AF: 0.625 AC: 1316 AN: 2104

Alfa AF: 0.640 Hom.: 107809

Bravo AF: 0.649

Asia WGS AF: 0.779 AC: 2709 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	0.38
DANN	Benign	0.52
PhyloP100		-0.16

Splicing

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

Other links and lift over

dbSNP: rs6974363; hg19: chr7-47633187;