rs17078046

Variant names:

• chr13-23012112-G-A
• rs17078046

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 0.132 in 151,904 control chromosomes in the GnomAD database, including 1,658 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 0.13 (1658 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.167

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.215 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: 0.132 AC: 20071 AN: 151792 Hom.: 1648 Cov.: 31

Gnomad AFR AF: 0.219

Gnomad AMI AF: 0.0537

Gnomad AMR AF: 0.152

Gnomad ASJ AF: 0.132

Gnomad EAS AF: 0.00776

Gnomad SAS AF: 0.0856

Gnomad FIN AF: 0.0811

Gnomad MID AF: 0.124

Gnomad NFE AF: 0.0974

Gnomad OTH AF: 0.116

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

GnomAD4 genome AF: 0.132 AC: 20111 AN: 151904 Hom.: 1658 Cov.: 31 AF XY: 0.132 AC XY: 9813 AN XY: 74252

Gnomad4 AFR AF: 0.219

Gnomad4 AMR AF: 0.152

Gnomad4 ASJ AF: 0.132

Gnomad4 EAS AF: 0.00778

Gnomad4 SAS AF: 0.0857

Gnomad4 FIN AF: 0.0811

Gnomad4 NFE AF: 0.0974

Gnomad4 OTH AF: 0.116

Alfa AF: 0.135 Hom.: 226

Bravo AF: 0.138

Asia WGS AF: 0.0780 AC: 272 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	2.6
DANN	Benign	0.38

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17078046; hg19: chr13-23586251;