rs17126180

Variant names:

• chr12-51870172-C-G
• rs17126180

Your query was ambiguous. Multiple possible variants found:

• chr12-51870172-C-G
• chr12-51870172-C-T

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 0.0807 in 152,154 control chromosomes in the GnomAD database, including 716 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 0.081 (716 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0410

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.175 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: 0.0806 AC: 12258 AN: 152036 Hom.: 710 Cov.: 32

Gnomad AFR AF: 0.0528

Gnomad AMI AF: 0.0474

Gnomad AMR AF: 0.176

Gnomad ASJ AF: 0.100

Gnomad EAS AF: 0.185

Gnomad SAS AF: 0.167

Gnomad FIN AF: 0.132

Gnomad MID AF: 0.0601

Gnomad NFE AF: 0.0537

Gnomad OTH AF: 0.0810

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

GnomAD4 genome AF: 0.0807 AC: 12279 AN: 152154 Hom.: 716 Cov.: 32 AF XY: 0.0881 AC XY: 6551 AN XY: 74372

Gnomad4 AFR AF: 0.0531

Gnomad4 AMR AF: 0.175

Gnomad4 ASJ AF: 0.100

Gnomad4 EAS AF: 0.185

Gnomad4 SAS AF: 0.167

Gnomad4 FIN AF: 0.132

Gnomad4 NFE AF: 0.0537

Gnomad4 OTH AF: 0.0825

Alfa AF: 0.0562 Hom.: 195

Bravo AF: 0.0837

Asia WGS AF: 0.180 AC: 627 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	0.72
DANN	Benign	0.54

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17126180; hg19: chr12-52263956;