rs8082421

Variant names:

• chr17-14982570-G-A
• rs8082421

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 0.419 in 151,914 control chromosomes in the GnomAD database, including 16,896 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 0.42 (16896 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.149
• Publications: 0 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.752 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: 0.418 AC: 63521 AN: 151794 Hom.: 16853 Cov.: 31

Gnomad AFR AF: 0.759

Gnomad AMI AF: 0.195

Gnomad AMR AF: 0.360

Gnomad ASJ AF: 0.285

Gnomad EAS AF: 0.324

Gnomad SAS AF: 0.296

Gnomad FIN AF: 0.325

Gnomad MID AF: 0.369

Gnomad NFE AF: 0.266

Gnomad OTH AF: 0.385

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

GnomAD4 genome AF: 0.419 AC: 63626 AN: 151914 Hom.: 16896 Cov.: 31 AF XY: 0.418 AC XY: 30999 AN XY: 74244

African (AFR) AF: 0.759 AC: 31447 AN: 41426

American (AMR) AF: 0.360 AC: 5507 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.285 AC: 986 AN: 3464

East Asian (EAS) AF: 0.324 AC: 1668 AN: 5152

South Asian (SAS) AF: 0.295 AC: 1422 AN: 4816

European-Finnish (FIN) AF: 0.325 AC: 3422 AN: 10540

Middle Eastern (MID) AF: 0.380 AC: 111 AN: 292

European-Non Finnish (NFE) AF: 0.266 AC: 18083 AN: 67926

Other (OTH) AF: 0.381 AC: 803 AN: 2110

Alfa AF: 0.306 Hom.: 4292

Bravo AF: 0.434

Asia WGS AF: 0.332 AC: 1155 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.34
DANN	Benign	0.20
PhyloP100		-0.15

Splicing

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

Other links and lift over

dbSNP: rs8082421; hg19: chr17-14885887;