18-71116155-G-T

Variant names:

• chr18-71116155-G-T
• rs7237072

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 0.362 in 151,896 control chromosomes in the GnomAD database, including 10,162 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 0.36 (10162 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0900

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.533 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: 0.362 AC: 54945 AN: 151778 Hom.: 10152 Cov.: 32

Gnomad AFR AF: 0.379

Gnomad AMI AF: 0.249

Gnomad AMR AF: 0.311

Gnomad ASJ AF: 0.262

Gnomad EAS AF: 0.550

Gnomad SAS AF: 0.411

Gnomad FIN AF: 0.399

Gnomad MID AF: 0.405

Gnomad NFE AF: 0.347

Gnomad OTH AF: 0.319

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

GnomAD4 genome AF: 0.362 AC: 54996 AN: 151896 Hom.: 10162 Cov.: 32 AF XY: 0.364 AC XY: 27020 AN XY: 74236

Gnomad4 AFR AF: 0.380

Gnomad4 AMR AF: 0.311

Gnomad4 ASJ AF: 0.262

Gnomad4 EAS AF: 0.550

Gnomad4 SAS AF: 0.410

Gnomad4 FIN AF: 0.399

Gnomad4 NFE AF: 0.347

Gnomad4 OTH AF: 0.319

Alfa AF: 0.346 Hom.: 7221

Bravo AF: 0.350

Asia WGS AF: 0.474 AC: 1642 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	1.6
DANN	Benign	0.33

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7237072; hg19: chr18-68783391;