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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.656 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

Gnomad4 AFR AF: 0.662

Gnomad4 AMR AF: 0.638

Gnomad4 ASJ AF: 0.607

Gnomad4 EAS AF: 0.822

Gnomad4 SAS AF: 0.790

Gnomad4 FIN AF: 0.684

Gnomad4 NFE AF: 0.634

Gnomad4 OTH AF: 0.625

Alfa AF: 0.638 Hom.: 65540

Bravo AF: 0.649

Asia WGS AF: 0.779 AC: 2709 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.38
DANN	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6974363; hg19: chr7-47633187;