rs8019526

Variant names:

• chr14-104393082-A-G
• rs8019526

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 0.708 in 152,128 control chromosomes in the GnomAD database, including 39,380 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 0.71 (39380 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.49

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.891 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: 0.708 AC: 107671 AN: 152010 Hom.: 39344 Cov.: 33

Gnomad AFR AF: 0.898

Gnomad AMI AF: 0.585

Gnomad AMR AF: 0.509

Gnomad ASJ AF: 0.669

Gnomad EAS AF: 0.552

Gnomad SAS AF: 0.634

Gnomad FIN AF: 0.684

Gnomad MID AF: 0.766

Gnomad NFE AF: 0.662

Gnomad OTH AF: 0.686

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

GnomAD4 genome AF: 0.708 AC: 107752 AN: 152128 Hom.: 39380 Cov.: 33 AF XY: 0.703 AC XY: 52290 AN XY: 74346

Gnomad4 AFR AF: 0.899

Gnomad4 AMR AF: 0.508

Gnomad4 ASJ AF: 0.669

Gnomad4 EAS AF: 0.552

Gnomad4 SAS AF: 0.634

Gnomad4 FIN AF: 0.684

Gnomad4 NFE AF: 0.662

Gnomad4 OTH AF: 0.687

Alfa AF: 0.669 Hom.: 15557

Bravo AF: 0.699

Asia WGS AF: 0.646 AC: 2249 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	0.43
DANN	Benign	0.42

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8019526; hg19: chr14-104859419; COSMIC: COSV65950272;