rs7793196

Variant names:

• chr7-87493531-A-G
• rs7793196

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 0.293 in 152,086 control chromosomes in the GnomAD database, including 8,719 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 0.29 (8719 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.763
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.558 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: 0.292 AC: 44399 AN: 151968 Hom.: 8678 Cov.: 32

Gnomad AFR AF: 0.563

Gnomad AMI AF: 0.167

Gnomad AMR AF: 0.210

Gnomad ASJ AF: 0.213

Gnomad EAS AF: 0.271

Gnomad SAS AF: 0.238

Gnomad FIN AF: 0.161

Gnomad MID AF: 0.158

Gnomad NFE AF: 0.179

Gnomad OTH AF: 0.254

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

GnomAD4 genome AF: 0.293 AC: 44497 AN: 152086 Hom.: 8719 Cov.: 32 AF XY: 0.289 AC XY: 21491 AN XY: 74350

African (AFR) AF: 0.564 AC: 23358 AN: 41442

American (AMR) AF: 0.210 AC: 3212 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.213 AC: 739 AN: 3468

East Asian (EAS) AF: 0.270 AC: 1395 AN: 5174

South Asian (SAS) AF: 0.238 AC: 1145 AN: 4816

European-Finnish (FIN) AF: 0.161 AC: 1710 AN: 10606

Middle Eastern (MID) AF: 0.163 AC: 48 AN: 294

European-Non Finnish (NFE) AF: 0.179 AC: 12190 AN: 67990

Other (OTH) AF: 0.259 AC: 548 AN: 2116

Alfa AF: 0.201 Hom.: 2393

Bravo AF: 0.308

Asia WGS AF: 0.267 AC: 928 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	1.1
DANN	Benign	0.65
PhyloP100		-0.76

Splicing

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

Other links and lift over

dbSNP: rs7793196; hg19: chr7-87122847;