18-51155585-A-G

Variant names:

• chr18-51155585-A-G
• rs17736674

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 0.477 in 152,008 control chromosomes in the GnomAD database, including 17,610 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 0.48 (17610 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.23
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.526 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: 0.477 AC: 72522 AN: 151888 Hom.: 17606 Cov.: 33

Gnomad AFR AF: 0.410

Gnomad AMI AF: 0.480

Gnomad AMR AF: 0.434

Gnomad ASJ AF: 0.526

Gnomad EAS AF: 0.448

Gnomad SAS AF: 0.450

Gnomad FIN AF: 0.473

Gnomad MID AF: 0.418

Gnomad NFE AF: 0.530

Gnomad OTH AF: 0.485

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

GnomAD4 genome AF: 0.477 AC: 72574 AN: 152008 Hom.: 17610 Cov.: 33 AF XY: 0.473 AC XY: 35129 AN XY: 74308

African (AFR) AF: 0.411 AC: 17012 AN: 41430

American (AMR) AF: 0.434 AC: 6630 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.526 AC: 1825 AN: 3468

East Asian (EAS) AF: 0.448 AC: 2325 AN: 5186

South Asian (SAS) AF: 0.449 AC: 2160 AN: 4814

European-Finnish (FIN) AF: 0.473 AC: 4996 AN: 10554

Middle Eastern (MID) AF: 0.408 AC: 120 AN: 294

European-Non Finnish (NFE) AF: 0.530 AC: 36052 AN: 67972

Other (OTH) AF: 0.482 AC: 1018 AN: 2110

Alfa AF: 0.383 Hom.: 1064

Bravo AF: 0.468

Asia WGS AF: 0.423 AC: 1469 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	17
DANN	Benign	0.40
PhyloP100		1.2

Splicing

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

Other links and lift over

dbSNP: rs17736674; hg19: chr18-48681955;