17-30347334-A-G

Variant names:

• chr17-30347334-A-G
• rs8071580

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 0.406 in 152,048 control chromosomes in the GnomAD database, including 13,290 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 0.41 (13290 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.09
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.539 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: 0.405 AC: 61585 AN: 151930 Hom.: 13250 Cov.: 32

Gnomad AFR AF: 0.544

Gnomad AMI AF: 0.455

Gnomad AMR AF: 0.395

Gnomad ASJ AF: 0.359

Gnomad EAS AF: 0.161

Gnomad SAS AF: 0.376

Gnomad FIN AF: 0.326

Gnomad MID AF: 0.363

Gnomad NFE AF: 0.359

Gnomad OTH AF: 0.392

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

GnomAD4 genome AF: 0.406 AC: 61687 AN: 152048 Hom.: 13290 Cov.: 32 AF XY: 0.401 AC XY: 29817 AN XY: 74328

African (AFR) AF: 0.545 AC: 22597 AN: 41448

American (AMR) AF: 0.395 AC: 6033 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.359 AC: 1247 AN: 3470

East Asian (EAS) AF: 0.160 AC: 830 AN: 5174

South Asian (SAS) AF: 0.376 AC: 1812 AN: 4824

European-Finnish (FIN) AF: 0.326 AC: 3453 AN: 10582

Middle Eastern (MID) AF: 0.366 AC: 107 AN: 292

European-Non Finnish (NFE) AF: 0.359 AC: 24368 AN: 67962

Other (OTH) AF: 0.393 AC: 826 AN: 2104

Alfa AF: 0.321 Hom.: 2251

Bravo AF: 0.415

Asia WGS AF: 0.307 AC: 1067 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	0.42
DANN	Benign	0.22
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs8071580; hg19: chr17-28674352;