rs1818816

Positions:

• chr17-36111966-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 0.193 in 150,570 control chromosomes in the GnomAD database, including 232 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 0.19 (232 hom., cov: 35)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.998

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.316 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: 0.193 AC: 29063 AN: 150454 Hom.: 232 Cov.: 35

Gnomad AFR AF: 0.320

Gnomad AMI AF: 0.115

Gnomad AMR AF: 0.150

Gnomad ASJ AF: 0.165

Gnomad EAS AF: 0.189

Gnomad SAS AF: 0.186

Gnomad FIN AF: 0.123

Gnomad MID AF: 0.137

Gnomad NFE AF: 0.142

Gnomad OTH AF: 0.171

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

GnomAD4 genome AF: 0.193 AC: 29108 AN: 150570 Hom.: 232 Cov.: 35 AF XY: 0.192 AC XY: 14107 AN XY: 73588

Gnomad4 AFR AF: 0.321

Gnomad4 AMR AF: 0.150

Gnomad4 ASJ AF: 0.165

Gnomad4 EAS AF: 0.188

Gnomad4 SAS AF: 0.187

Gnomad4 FIN AF: 0.123

Gnomad4 NFE AF: 0.142

Gnomad4 OTH AF: 0.169

Alfa AF: 0.165 Hom.: 21

Asia WGS AF: 0.186 AC: 649 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.7
DANN	Benign	0.49

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1818816; hg19: chr17-34439359;