rs8085349

Positions:

• chr18-60066196-A-G

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 0.512 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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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

Gnomad4 AFR AF: 0.686

Gnomad4 AMR AF: 0.400

Gnomad4 ASJ AF: 0.374

Gnomad4 EAS AF: 0.201

Gnomad4 SAS AF: 0.544

Gnomad4 FIN AF: 0.452

Gnomad4 NFE AF: 0.469

Gnomad4 OTH AF: 0.498

Alfa AF: 0.479 Hom.: 8407

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8085349; hg19: chr18-57733428;