rs7993722

Variant names:

• chr13-82356270-C-A
• rs7993722

Your query was ambiguous. Multiple possible variants found:

• chr13-82356270-C-A
• chr13-82356270-C-G

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 0.619 in 151,958 control chromosomes in the GnomAD database, including 29,929 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 0.62 (29929 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.45
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.921 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: 0.619 AC: 93986 AN: 151840 Hom.: 29880 Cov.: 32

Gnomad AFR AF: 0.723

Gnomad AMI AF: 0.490

Gnomad AMR AF: 0.576

Gnomad ASJ AF: 0.577

Gnomad EAS AF: 0.943

Gnomad SAS AF: 0.724

Gnomad FIN AF: 0.549

Gnomad MID AF: 0.617

Gnomad NFE AF: 0.548

Gnomad OTH AF: 0.630

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

GnomAD4 genome AF: 0.619 AC: 94099 AN: 151958 Hom.: 29929 Cov.: 32 AF XY: 0.625 AC XY: 46398 AN XY: 74276

African (AFR) AF: 0.723 AC: 29990 AN: 41460

American (AMR) AF: 0.577 AC: 8790 AN: 15246

Ashkenazi Jewish (ASJ) AF: 0.577 AC: 2001 AN: 3468

East Asian (EAS) AF: 0.944 AC: 4878 AN: 5170

South Asian (SAS) AF: 0.723 AC: 3479 AN: 4814

European-Finnish (FIN) AF: 0.549 AC: 5781 AN: 10538

Middle Eastern (MID) AF: 0.643 AC: 189 AN: 294

European-Non Finnish (NFE) AF: 0.548 AC: 37206 AN: 67948

Other (OTH) AF: 0.635 AC: 1338 AN: 2108

Alfa AF: 0.564 Hom.: 26044

Bravo AF: 0.623

Asia WGS AF: 0.830 AC: 2882 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.035
DANN	Benign	0.31
PhyloP100		-1.5

Splicing

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

Other links and lift over

dbSNP: rs7993722; hg19: chr13-82930405;