chr17-47751209-A-G

Variant names:

• chr17-47751209-A-G
• rs17699436

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 0.0748 in 151,838 control chromosomes in the GnomAD database, including 546 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 0.075 (546 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.52
• Publications: 5 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 (SAS) allele frequency at 95% confidence interval = 0.198 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: 0.0749 AC: 11358 AN: 151718 Hom.: 544 Cov.: 31

Gnomad AFR AF: 0.0288

Gnomad AMI AF: 0.0482

Gnomad AMR AF: 0.102

Gnomad ASJ AF: 0.0853

Gnomad EAS AF: 0.0603

Gnomad SAS AF: 0.209

Gnomad FIN AF: 0.0742

Gnomad MID AF: 0.0478

Gnomad NFE AF: 0.0884

Gnomad OTH AF: 0.0745

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

GnomAD4 genome AF: 0.0748 AC: 11352 AN: 151838 Hom.: 546 Cov.: 31 AF XY: 0.0774 AC XY: 5747 AN XY: 74238

African (AFR) AF: 0.0287 AC: 1191 AN: 41432

American (AMR) AF: 0.102 AC: 1554 AN: 15238

Ashkenazi Jewish (ASJ) AF: 0.0853 AC: 296 AN: 3470

East Asian (EAS) AF: 0.0603 AC: 312 AN: 5178

South Asian (SAS) AF: 0.208 AC: 1004 AN: 4816

European-Finnish (FIN) AF: 0.0742 AC: 776 AN: 10462

Middle Eastern (MID) AF: 0.0442 AC: 13 AN: 294

European-Non Finnish (NFE) AF: 0.0884 AC: 6006 AN: 67934

Other (OTH) AF: 0.0742 AC: 156 AN: 2102

Alfa AF: 0.0836 Hom.: 623

Bravo AF: 0.0719

Asia WGS AF: 0.136 AC: 477 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.69
DANN	Benign	0.33
PhyloP100		-1.5

Splicing

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

Other links and lift over

dbSNP: rs17699436; hg19: chr17-45828575;