rs790025

Variant names:

• chr2-232438423-C-A
• rs790025

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 0.173 in 152,068 control chromosomes in the GnomAD database, including 2,474 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 0.17 (2474 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.208
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.249 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: 0.173 AC: 26287 AN: 151950 Hom.: 2477 Cov.: 33

Gnomad AFR AF: 0.113

Gnomad AMI AF: 0.187

Gnomad AMR AF: 0.143

Gnomad ASJ AF: 0.215

Gnomad EAS AF: 0.0387

Gnomad SAS AF: 0.261

Gnomad FIN AF: 0.178

Gnomad MID AF: 0.228

Gnomad NFE AF: 0.217

Gnomad OTH AF: 0.182

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

GnomAD4 genome AF: 0.173 AC: 26297 AN: 152068 Hom.: 2474 Cov.: 33 AF XY: 0.171 AC XY: 12705 AN XY: 74350

African (AFR) AF: 0.113 AC: 4678 AN: 41498

American (AMR) AF: 0.143 AC: 2178 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.215 AC: 748 AN: 3472

East Asian (EAS) AF: 0.0388 AC: 200 AN: 5158

South Asian (SAS) AF: 0.261 AC: 1257 AN: 4812

European-Finnish (FIN) AF: 0.178 AC: 1889 AN: 10594

Middle Eastern (MID) AF: 0.221 AC: 65 AN: 294

European-Non Finnish (NFE) AF: 0.217 AC: 14725 AN: 67936

Other (OTH) AF: 0.183 AC: 387 AN: 2112

Alfa AF: 0.208 Hom.: 6573

Bravo AF: 0.165

Asia WGS AF: 0.129 AC: 450 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	6.8
DANN	Benign	0.66
PhyloP100		0.21

Splicing

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

Other links and lift over

dbSNP: rs790025; hg19: chr2-233303133;