rs17037068

Variant names:

• chr12-105415167-C-G
• rs17037068

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 0.0619 in 152,230 control chromosomes in the GnomAD database, including 763 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 (763 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0380

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 (AFR) allele frequency at 95% confidence interval = 0.184 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: 0.0618 AC: 9403 AN: 152112 Hom.: 761 Cov.: 33

Gnomad AFR AF: 0.187

Gnomad AMI AF: 0.00219

Gnomad AMR AF: 0.0267

Gnomad ASJ AF: 0.0268

Gnomad EAS AF: 0.00615

Gnomad SAS AF: 0.0284

Gnomad FIN AF: 0.00377

Gnomad MID AF: 0.0285

Gnomad NFE AF: 0.0125

Gnomad OTH AF: 0.0435

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

GnomAD4 genome AF: 0.0619 AC: 9424 AN: 152230 Hom.: 763 Cov.: 33 AF XY: 0.0592 AC XY: 4408 AN XY: 74434

Gnomad4 AFR AF: 0.187

Gnomad4 AMR AF: 0.0266

Gnomad4 ASJ AF: 0.0268

Gnomad4 EAS AF: 0.00617

Gnomad4 SAS AF: 0.0286

Gnomad4 FIN AF: 0.00377

Gnomad4 NFE AF: 0.0125

Gnomad4 OTH AF: 0.0431

Alfa AF: 0.0409 Hom.: 63

Bravo AF: 0.0693

Asia WGS AF: 0.0220 AC: 77 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	1.9
DANN	Benign	0.57

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17037068; hg19: chr12-105808945;