rs17730929

Variant names:

• chr4-66491736-A-C
• rs17730929

Your query was ambiguous. Multiple possible variants found:

• chr4-66491736-A-C
• chr4-66491736-A-G

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 0.0622 in 152,222 control chromosomes in the GnomAD database, including 298 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 0.062 (298 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.556
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.78).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0724 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: 0.0622 AC: 9467 AN: 152104 Hom.: 299 Cov.: 32

Gnomad AFR AF: 0.0746

Gnomad AMI AF: 0.0351

Gnomad AMR AF: 0.0367

Gnomad ASJ AF: 0.0182

Gnomad EAS AF: 0.000965

Gnomad SAS AF: 0.0347

Gnomad FIN AF: 0.0827

Gnomad MID AF: 0.0190

Gnomad NFE AF: 0.0671

Gnomad OTH AF: 0.0497

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

GnomAD4 genome AF: 0.0622 AC: 9470 AN: 152222 Hom.: 298 Cov.: 32 AF XY: 0.0612 AC XY: 4554 AN XY: 74438

African (AFR) AF: 0.0746 AC: 3100 AN: 41562

American (AMR) AF: 0.0366 AC: 558 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.0182 AC: 63 AN: 3468

East Asian (EAS) AF: 0.000967 AC: 5 AN: 5172

South Asian (SAS) AF: 0.0341 AC: 165 AN: 4832

European-Finnish (FIN) AF: 0.0827 AC: 877 AN: 10610

Middle Eastern (MID) AF: 0.0136 AC: 4 AN: 294

European-Non Finnish (NFE) AF: 0.0671 AC: 4562 AN: 67996

Other (OTH) AF: 0.0491 AC: 104 AN: 2116

Alfa AF: 0.0336 Hom.: 25

Bravo AF: 0.0598

Asia WGS AF: 0.0210 AC: 74 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.78
CADD	Benign	3.7
DANN	Benign	0.89
PhyloP100		0.56

Splicing

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

Other links and lift over

dbSNP: rs17730929; hg19: chr4-67357454;