rs17172526

Variant names:

• chr7-35944418-G-A
• rs17172526

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 0.169 in 152,020 control chromosomes in the GnomAD database, including 3,649 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 0.17 (3649 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.205
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.387 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: 0.169 AC: 25735 AN: 151906 Hom.: 3647 Cov.: 31

Gnomad AFR AF: 0.392

Gnomad AMI AF: 0.141

Gnomad AMR AF: 0.0964

Gnomad ASJ AF: 0.120

Gnomad EAS AF: 0.00116

Gnomad SAS AF: 0.0422

Gnomad FIN AF: 0.0553

Gnomad MID AF: 0.193

Gnomad NFE AF: 0.0933

Gnomad OTH AF: 0.158

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

GnomAD4 genome AF: 0.169 AC: 25767 AN: 152020 Hom.: 3649 Cov.: 31 AF XY: 0.164 AC XY: 12174 AN XY: 74336

African (AFR) AF: 0.392 AC: 16235 AN: 41404

American (AMR) AF: 0.0962 AC: 1463 AN: 15202

Ashkenazi Jewish (ASJ) AF: 0.120 AC: 416 AN: 3468

East Asian (EAS) AF: 0.00116 AC: 6 AN: 5182

South Asian (SAS) AF: 0.0416 AC: 201 AN: 4830

European-Finnish (FIN) AF: 0.0553 AC: 587 AN: 10608

Middle Eastern (MID) AF: 0.177 AC: 52 AN: 294

European-Non Finnish (NFE) AF: 0.0933 AC: 6349 AN: 68016

Other (OTH) AF: 0.157 AC: 330 AN: 2106

Alfa AF: 0.132 Hom.: 2837

Bravo AF: 0.183

Asia WGS AF: 0.0530 AC: 185 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	2.3
DANN	Benign	0.73
PhyloP100		0.20

Splicing

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

Other links and lift over

dbSNP: rs17172526; hg19: chr7-35984028;