12-68254535-CAT-C

Variant names:

• chr12-68254535-CAT-C
• rs35774195

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.51 (20277 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.15
• Publications: 2 publications found

ACMG classification

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

• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.575 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.513 AC: 77388 AN: 150924 Hom.: 20274 Cov.: 0

Gnomad AFR AF: 0.424

Gnomad AMI AF: 0.547

Gnomad AMR AF: 0.516

Gnomad ASJ AF: 0.430

Gnomad EAS AF: 0.481

Gnomad SAS AF: 0.386

Gnomad FIN AF: 0.533

Gnomad MID AF: 0.382

Gnomad NFE AF: 0.580

Gnomad OTH AF: 0.479

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

GnomAD4 genome AF: 0.513 AC: 77412 AN: 151030 Hom.: 20277 Cov.: 0 AF XY: 0.509 AC XY: 37581 AN XY: 73764

African (AFR) AF: 0.424 AC: 17444 AN: 41146

American (AMR) AF: 0.516 AC: 7811 AN: 15150

Ashkenazi Jewish (ASJ) AF: 0.430 AC: 1491 AN: 3470

East Asian (EAS) AF: 0.481 AC: 2465 AN: 5128

South Asian (SAS) AF: 0.386 AC: 1858 AN: 4814

European-Finnish (FIN) AF: 0.533 AC: 5488 AN: 10294

Middle Eastern (MID) AF: 0.382 AC: 110 AN: 288

European-Non Finnish (NFE) AF: 0.580 AC: 39261 AN: 67744

Other (OTH) AF: 0.473 AC: 985 AN: 2084

Alfa AF: 0.543 Hom.: 2347

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		1.1

Splicing

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

Other links and lift over

dbSNP: rs35774195; hg19: chr12-68648315;