rs17037068

Variant names:

• chr12-105415167-C-G
• rs17037068

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 0.0619 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
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.187 AC: 7763 AN: 41494

American (AMR) AF: 0.0266 AC: 407 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.0268 AC: 93 AN: 3472

East Asian (EAS) AF: 0.00617 AC: 32 AN: 5190

South Asian (SAS) AF: 0.0286 AC: 138 AN: 4826

European-Finnish (FIN) AF: 0.00377 AC: 40 AN: 10610

Middle Eastern (MID) AF: 0.0238 AC: 7 AN: 294

European-Non Finnish (NFE) AF: 0.0125 AC: 851 AN: 68028

Other (OTH) AF: 0.0431 AC: 91 AN: 2112

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
PhyloP100		-0.038

Splicing

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

Other links and lift over

dbSNP: rs17037068; hg19: chr12-105808945;