chr18-60201132-C-T

Variant names:

• chr18-60201132-C-T
• rs1942872

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 0.213 in 151,774 control chromosomes in the GnomAD database, including 3,820 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 0.21 (3820 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.51
• Publications: 13 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.333 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: 0.214 AC: 32392 AN: 151656 Hom.: 3818 Cov.: 32

Gnomad AFR AF: 0.136

Gnomad AMI AF: 0.336

Gnomad AMR AF: 0.173

Gnomad ASJ AF: 0.217

Gnomad EAS AF: 0.187

Gnomad SAS AF: 0.345

Gnomad FIN AF: 0.184

Gnomad MID AF: 0.271

Gnomad NFE AF: 0.265

Gnomad OTH AF: 0.217

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

GnomAD4 genome AF: 0.213 AC: 32400 AN: 151774 Hom.: 3820 Cov.: 32 AF XY: 0.210 AC XY: 15559 AN XY: 74150

African (AFR) AF: 0.136 AC: 5639 AN: 41404

American (AMR) AF: 0.173 AC: 2635 AN: 15240

Ashkenazi Jewish (ASJ) AF: 0.217 AC: 754 AN: 3472

East Asian (EAS) AF: 0.186 AC: 958 AN: 5138

South Asian (SAS) AF: 0.346 AC: 1662 AN: 4798

European-Finnish (FIN) AF: 0.184 AC: 1927 AN: 10494

Middle Eastern (MID) AF: 0.267 AC: 78 AN: 292

European-Non Finnish (NFE) AF: 0.265 AC: 17982 AN: 67916

Other (OTH) AF: 0.218 AC: 460 AN: 2112

Alfa AF: 0.224 Hom.: 540

Bravo AF: 0.208

Asia WGS AF: 0.211 AC: 734 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	1.3
DANN	Benign	0.78
PhyloP100		-1.5

Splicing

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

Other links and lift over

dbSNP: rs1942872; hg19: chr18-57868365;