rs17018757

chr12-91112087-CT-C

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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;