rs17018757

Variant names:

• chr12-91112087-CT-C
• rs17018757

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

The variant allele was found at a frequency of 0.0312 in 152,210 control chromosomes in the GnomAD database, including 248 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.031 (248 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.236

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.25 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: 0.0312 AC: 4738 AN: 152092 Hom.: 247 Cov.: 32

Gnomad AFR AF: 0.0154

Gnomad AMI AF: 0.00548

Gnomad AMR AF: 0.0396

Gnomad ASJ AF: 0.0185

Gnomad EAS AF: 0.261

Gnomad SAS AF: 0.0908

Gnomad FIN AF: 0.0198

Gnomad MID AF: 0.0570

Gnomad NFE AF: 0.0197

Gnomad OTH AF: 0.0321

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

GnomAD4 genome AF: 0.0312 AC: 4743 AN: 152210 Hom.: 248 Cov.: 32 AF XY: 0.0344 AC XY: 2556 AN XY: 74400

Gnomad4 AFR AF: 0.0156

Gnomad4 AMR AF: 0.0395

Gnomad4 ASJ AF: 0.0185

Gnomad4 EAS AF: 0.261

Gnomad4 SAS AF: 0.0911

Gnomad4 FIN AF: 0.0198

Gnomad4 NFE AF: 0.0197

Gnomad4 OTH AF: 0.0313

Alfa AF: 0.00907 Hom.: 1

Bravo AF: 0.0322

Asia WGS AF: 0.167 AC: 581 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17018757; hg19: chr12-91505864;