rs7244215

Variant names:

• chr18-70376080-G-A
• rs7244215

Your query was ambiguous. Multiple possible variants found:

• chr18-70376080-G-A
• chr18-70376080-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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;