rs7244215

chr18-70376080-G-Achr18-70376080-G-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 0.256 in 151,722 control chromosomes in the GnomAD database, including 5,142 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 0.26 (5142 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.502

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.297 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: 0.256 AC: 38779 AN: 151604 Hom.: 5131 Cov.: 31

Gnomad AFR AF: 0.228

Gnomad AMI AF: 0.305

Gnomad AMR AF: 0.222

Gnomad ASJ AF: 0.285

Gnomad EAS AF: 0.135

Gnomad SAS AF: 0.215

Gnomad FIN AF: 0.185

Gnomad MID AF: 0.277

Gnomad NFE AF: 0.300

Gnomad OTH AF: 0.275

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

GnomAD4 genome AF: 0.256 AC: 38824 AN: 151722 Hom.: 5142 Cov.: 31 AF XY: 0.247 AC XY: 18303 AN XY: 74150

Gnomad4 AFR AF: 0.229

Gnomad4 AMR AF: 0.221

Gnomad4 ASJ AF: 0.285

Gnomad4 EAS AF: 0.135

Gnomad4 SAS AF: 0.216

Gnomad4 FIN AF: 0.185

Gnomad4 NFE AF: 0.300

Gnomad4 OTH AF: 0.276

Alfa AF: 0.281 Hom.: 8074

Bravo AF: 0.257

Asia WGS AF: 0.170 AC: 593 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
Cadd	Benign	2.3
Dann	Benign	0.36

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7244215; hg19: chr18-68043316;