rs17018757

Variant names:

• chr12-91112087-CT-C
• rs17018757

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.25 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.0156 AC: 650 AN: 41554

American (AMR) AF: 0.0395 AC: 603 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.0185 AC: 64 AN: 3468

East Asian (EAS) AF: 0.261 AC: 1350 AN: 5168

South Asian (SAS) AF: 0.0911 AC: 439 AN: 4818

European-Finnish (FIN) AF: 0.0198 AC: 210 AN: 10592

Middle Eastern (MID) AF: 0.0544 AC: 16 AN: 294

European-Non Finnish (NFE) AF: 0.0197 AC: 1340 AN: 68016

Other (OTH) AF: 0.0313 AC: 66 AN: 2108

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 v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.24

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs17018757;

hg19: chr12-91505864;