rs8019526

Variant names:

• chr14-104393082-A-G
• rs8019526

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 0.708 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
• Publications: 0 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.899 AC: 37324 AN: 41540

American (AMR) AF: 0.508 AC: 7766 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.669 AC: 2320 AN: 3470

East Asian (EAS) AF: 0.552 AC: 2842 AN: 5148

South Asian (SAS) AF: 0.634 AC: 3058 AN: 4822

European-Finnish (FIN) AF: 0.684 AC: 7228 AN: 10570

Middle Eastern (MID) AF: 0.745 AC: 219 AN: 294

European-Non Finnish (NFE) AF: 0.662 AC: 45012 AN: 67962

Other (OTH) AF: 0.687 AC: 1452 AN: 2114

Alfa AF: 0.668 Hom.: 17248

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
PhyloP100		-1.5

Splicing

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

Other links and lift over

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