rs17784795

Variant names:

• chr18-47202373-T-C
• rs17784795

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 0.102 in 152,240 control chromosomes in the GnomAD database, including 836 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 0.10 (836 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.467
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.115 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: 0.102 AC: 15510 AN: 152120 Hom.: 833 Cov.: 32

Gnomad AFR AF: 0.0845

Gnomad AMI AF: 0.0208

Gnomad AMR AF: 0.0803

Gnomad ASJ AF: 0.0913

Gnomad EAS AF: 0.0986

Gnomad SAS AF: 0.0478

Gnomad FIN AF: 0.146

Gnomad MID AF: 0.0633

Gnomad NFE AF: 0.117

Gnomad OTH AF: 0.0961

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

GnomAD4 genome AF: 0.102 AC: 15545 AN: 152240 Hom.: 836 Cov.: 32 AF XY: 0.101 AC XY: 7507 AN XY: 74442

African (AFR) AF: 0.0851 AC: 3538 AN: 41556

American (AMR) AF: 0.0804 AC: 1228 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.0913 AC: 317 AN: 3472

East Asian (EAS) AF: 0.0985 AC: 510 AN: 5180

South Asian (SAS) AF: 0.0483 AC: 233 AN: 4828

European-Finnish (FIN) AF: 0.146 AC: 1548 AN: 10612

Middle Eastern (MID) AF: 0.0544 AC: 16 AN: 294

European-Non Finnish (NFE) AF: 0.117 AC: 7933 AN: 68000

Other (OTH) AF: 0.0960 AC: 203 AN: 2114

Alfa AF: 0.107 Hom.: 454

Bravo AF: 0.0972

Asia WGS AF: 0.0830 AC: 290 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.4
DANN	Benign	0.47
PhyloP100		-0.47

Splicing

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

Other links and lift over

dbSNP: rs17784795; hg19: chr18-44728744;