rs8018193

Variant names:

• chr14-35416541-G-A
• rs8018193

Your query was ambiguous. Multiple possible variants found:

• chr14-35416541-G-A
• chr14-35416541-G-C

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 0.319 in 151,844 control chromosomes in the GnomAD database, including 8,291 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 0.32 (8291 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.683

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.382 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: 0.319 AC: 48415 AN: 151726 Hom.: 8276 Cov.: 31

Gnomad AFR AF: 0.182

Gnomad AMI AF: 0.120

Gnomad AMR AF: 0.281

Gnomad ASJ AF: 0.381

Gnomad EAS AF: 0.354

Gnomad SAS AF: 0.397

Gnomad FIN AF: 0.455

Gnomad MID AF: 0.320

Gnomad NFE AF: 0.382

Gnomad OTH AF: 0.310

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

GnomAD4 genome AF: 0.319 AC: 48455 AN: 151844 Hom.: 8291 Cov.: 31 AF XY: 0.323 AC XY: 23962 AN XY: 74184

Gnomad4 AFR AF: 0.182

Gnomad4 AMR AF: 0.281

Gnomad4 ASJ AF: 0.381

Gnomad4 EAS AF: 0.355

Gnomad4 SAS AF: 0.397

Gnomad4 FIN AF: 0.455

Gnomad4 NFE AF: 0.382

Gnomad4 OTH AF: 0.316

Alfa AF: 0.364 Hom.: 17192

Bravo AF: 0.298

Asia WGS AF: 0.365 AC: 1270 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	4.6
DANN	Benign	0.60

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8018193; hg19: chr14-35885747;