rs8085349

Variant names:

• chr18-60066196-A-G
• rs8085349

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 0.512 in 149,504 control chromosomes in the GnomAD database, including 20,696 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 0.51 (20696 hom., cov: 27)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.502
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.68 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: 0.512 AC: 76469 AN: 149374 Hom.: 20667 Cov.: 27

Gnomad AFR AF: 0.686

Gnomad AMI AF: 0.438

Gnomad AMR AF: 0.400

Gnomad ASJ AF: 0.374

Gnomad EAS AF: 0.201

Gnomad SAS AF: 0.544

Gnomad FIN AF: 0.452

Gnomad MID AF: 0.513

Gnomad NFE AF: 0.469

Gnomad OTH AF: 0.501

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

GnomAD4 genome AF: 0.512 AC: 76556 AN: 149504 Hom.: 20696 Cov.: 27 AF XY: 0.508 AC XY: 37025 AN XY: 72864

African (AFR) AF: 0.686 AC: 28057 AN: 40870

American (AMR) AF: 0.400 AC: 5918 AN: 14812

Ashkenazi Jewish (ASJ) AF: 0.374 AC: 1294 AN: 3456

East Asian (EAS) AF: 0.201 AC: 976 AN: 4844

South Asian (SAS) AF: 0.544 AC: 2555 AN: 4694

European-Finnish (FIN) AF: 0.452 AC: 4550 AN: 10058

Middle Eastern (MID) AF: 0.507 AC: 149 AN: 294

European-Non Finnish (NFE) AF: 0.469 AC: 31618 AN: 67478

Other (OTH) AF: 0.498 AC: 1042 AN: 2092

Alfa AF: 0.480 Hom.: 9417

Bravo AF: 0.507

Asia WGS AF: 0.364 AC: 1265 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	1.5
DANN	Benign	0.27
PhyloP100		-0.50

Splicing

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

Other links and lift over

dbSNP: rs8085349; hg19: chr18-57733428;