rs8019505

Variant names:

• chr14-35384908-G-A
• rs8019505

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 0.248 in 152,130 control chromosomes in the GnomAD database, including 4,946 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 0.25 (4946 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.889

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.305 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: 0.248 AC: 37667 AN: 152012 Hom.: 4939 Cov.: 32

Gnomad AFR AF: 0.278

Gnomad AMI AF: 0.397

Gnomad AMR AF: 0.311

Gnomad ASJ AF: 0.166

Gnomad EAS AF: 0.0333

Gnomad SAS AF: 0.157

Gnomad FIN AF: 0.210

Gnomad MID AF: 0.184

Gnomad NFE AF: 0.247

Gnomad OTH AF: 0.225

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

GnomAD4 genome AF: 0.248 AC: 37707 AN: 152130 Hom.: 4946 Cov.: 32 AF XY: 0.243 AC XY: 18077 AN XY: 74368

Gnomad4 AFR AF: 0.278

Gnomad4 AMR AF: 0.312

Gnomad4 ASJ AF: 0.166

Gnomad4 EAS AF: 0.0334

Gnomad4 SAS AF: 0.155

Gnomad4 FIN AF: 0.210

Gnomad4 NFE AF: 0.247

Gnomad4 OTH AF: 0.227

Alfa AF: 0.244 Hom.: 7854

Bravo AF: 0.262

Asia WGS AF: 0.0990 AC: 348 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	0.48
DANN	Benign	0.48

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8019505; hg19: chr14-35854114;