rs7234352

chr18-63072000-A-G

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 0.344 in 152,110 control chromosomes in the GnomAD database, including 10,596 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 0.34 (10596 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.22

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.532 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.344 AC: 52318 AN: 151990 Hom.: 10563 Cov.: 32

Gnomad AFR AF: 0.538

Gnomad AMI AF: 0.360

Gnomad AMR AF: 0.394

Gnomad ASJ AF: 0.227

Gnomad EAS AF: 0.482

Gnomad SAS AF: 0.289

Gnomad FIN AF: 0.214

Gnomad MID AF: 0.188

Gnomad NFE AF: 0.236

Gnomad OTH AF: 0.308

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

GnomAD4 genome AF: 0.344 AC: 52400 AN: 152110 Hom.: 10596 Cov.: 32 AF XY: 0.342 AC XY: 25408 AN XY: 74358

Gnomad4 AFR AF: 0.538

Gnomad4 AMR AF: 0.395

Gnomad4 ASJ AF: 0.227

Gnomad4 EAS AF: 0.482

Gnomad4 SAS AF: 0.289

Gnomad4 FIN AF: 0.214

Gnomad4 NFE AF: 0.236

Gnomad4 OTH AF: 0.308

Alfa AF: 0.259 Hom.: 6579

Bravo AF: 0.372

Asia WGS AF: 0.393 AC: 1365 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
Cadd	Benign	0.059
Dann	Benign	0.27

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7234352; hg19: chr18-60739233;