18-71116155-G-T

Variant names:

• chr18-71116155-G-T
• rs7237072

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 0.362 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
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.380 AC: 15719 AN: 41420

American (AMR) AF: 0.311 AC: 4747 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.262 AC: 910 AN: 3468

East Asian (EAS) AF: 0.550 AC: 2836 AN: 5158

South Asian (SAS) AF: 0.410 AC: 1973 AN: 4816

European-Finnish (FIN) AF: 0.399 AC: 4198 AN: 10510

Middle Eastern (MID) AF: 0.391 AC: 115 AN: 294

European-Non Finnish (NFE) AF: 0.347 AC: 23596 AN: 67944

Other (OTH) AF: 0.319 AC: 675 AN: 2114

Alfa AF: 0.346 Hom.: 10756

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
PhyloP100		0.090

Splicing

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

Other links and lift over

dbSNP: rs7237072; hg19: chr18-68783391;