rs10850145

Variant names:

• chr12-113506324-C-T
• rs10850145

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.157 in 151,884 control chromosomes in the GnomAD database, including 2,627 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 0.16 (2627 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.512
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.31 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.157 AC: 23823 AN: 151768 Hom.: 2615 Cov.: 31

Gnomad AFR AF: 0.314

Gnomad AMI AF: 0.125

Gnomad AMR AF: 0.107

Gnomad ASJ AF: 0.177

Gnomad EAS AF: 0.0892

Gnomad SAS AF: 0.0798

Gnomad FIN AF: 0.0687

Gnomad MID AF: 0.196

Gnomad NFE AF: 0.0966

Gnomad OTH AF: 0.149

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

GnomAD4 genome AF: 0.157 AC: 23868 AN: 151884 Hom.: 2627 Cov.: 31 AF XY: 0.154 AC XY: 11423 AN XY: 74246

African (AFR) AF: 0.315 AC: 13003 AN: 41338

American (AMR) AF: 0.107 AC: 1629 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.177 AC: 615 AN: 3468

East Asian (EAS) AF: 0.0896 AC: 462 AN: 5156

South Asian (SAS) AF: 0.0800 AC: 385 AN: 4810

European-Finnish (FIN) AF: 0.0687 AC: 727 AN: 10580

Middle Eastern (MID) AF: 0.197 AC: 58 AN: 294

European-Non Finnish (NFE) AF: 0.0966 AC: 6562 AN: 67950

Other (OTH) AF: 0.148 AC: 313 AN: 2108

Alfa AF: 0.115 Hom.: 702

Bravo AF: 0.170

Asia WGS AF: 0.0820 AC: 285 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.56
DANN	Benign	0.55
PhyloP100		-0.51

Splicing

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

Other links and lift over

dbSNP: rs10850145; hg19: chr12-113944129;