rs17329669

Variant names:

• chr7-36812324-A-G
• rs17329669

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.115 in 151,958 control chromosomes in the GnomAD database, including 1,198 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 0.11 (1198 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0800

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.19 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: 0.115 AC: 17424 AN: 151840 Hom.: 1197 Cov.: 31

Gnomad AFR AF: 0.0745

Gnomad AMI AF: 0.168

Gnomad AMR AF: 0.101

Gnomad ASJ AF: 0.196

Gnomad EAS AF: 0.00425

Gnomad SAS AF: 0.200

Gnomad FIN AF: 0.0738

Gnomad MID AF: 0.215

Gnomad NFE AF: 0.145

Gnomad OTH AF: 0.130

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

GnomAD4 genome AF: 0.115 AC: 17452 AN: 151958 Hom.: 1198 Cov.: 31 AF XY: 0.111 AC XY: 8265 AN XY: 74242

Gnomad4 AFR AF: 0.0748

Gnomad4 AMR AF: 0.101

Gnomad4 ASJ AF: 0.196

Gnomad4 EAS AF: 0.00446

Gnomad4 SAS AF: 0.201

Gnomad4 FIN AF: 0.0738

Gnomad4 NFE AF: 0.145

Gnomad4 OTH AF: 0.135

Alfa AF: 0.141 Hom.: 1542

Bravo AF: 0.112

Asia WGS AF: 0.104 AC: 364 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.7
DANN	Benign	0.63

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17329669; hg19: chr7-36851929;