rs73963343

Positions:

• chr18-67032737-C-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 0.0383 in 152,200 control chromosomes in the GnomAD database, including 194 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 0.038 (194 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.443

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0813 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.0382 AC: 5807 AN: 152082 Hom.: 188 Cov.: 32

Gnomad AFR AF: 0.0836

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0187

Gnomad ASJ AF: 0.0334

Gnomad EAS AF: 0.00713

Gnomad SAS AF: 0.0685

Gnomad FIN AF: 0.00566

Gnomad MID AF: 0.0823

Gnomad NFE AF: 0.0208

Gnomad OTH AF: 0.0374

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

GnomAD4 genome AF: 0.0383 AC: 5826 AN: 152200 Hom.: 194 Cov.: 32 AF XY: 0.0372 AC XY: 2771 AN XY: 74432

Gnomad4 AFR AF: 0.0837

Gnomad4 AMR AF: 0.0186

Gnomad4 ASJ AF: 0.0334

Gnomad4 EAS AF: 0.00696

Gnomad4 SAS AF: 0.0679

Gnomad4 FIN AF: 0.00566

Gnomad4 NFE AF: 0.0208

Gnomad4 OTH AF: 0.0417

Alfa AF: 0.0319 Hom.: 19

Bravo AF: 0.0403

Asia WGS AF: 0.0760 AC: 263 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.56
DANN	Benign	0.54

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs73963343; hg19: chr18-64699974;