rs1818816

Variant names:

• chr17-36111966-C-T
• rs1818816

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 0.193 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
• Publications: 5 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.321 AC: 13022 AN: 40608

American (AMR) AF: 0.150 AC: 2271 AN: 15154

Ashkenazi Jewish (ASJ) AF: 0.165 AC: 571 AN: 3458

East Asian (EAS) AF: 0.188 AC: 966 AN: 5128

South Asian (SAS) AF: 0.187 AC: 895 AN: 4790

European-Finnish (FIN) AF: 0.123 AC: 1292 AN: 10482

Middle Eastern (MID) AF: 0.144 AC: 42 AN: 292

European-Non Finnish (NFE) AF: 0.142 AC: 9590 AN: 67652

Other (OTH) AF: 0.169 AC: 354 AN: 2096

Alfa AF: 0.165 Hom.: 21

Asia WGS AF: 0.186 AC: 649 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.7
DANN	Benign	0.49
PhyloP100		-1.0

Splicing

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

Other links and lift over

dbSNP: rs1818816; hg19: chr17-34439359;