rs12186813

Variant names:

• chr5-10802637-A-C
• rs12186813

Your query was ambiguous. Multiple possible variants found:

• chr5-10802637-A-C
• chr5-10802637-A-T

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 0.0788 in 152,234 control chromosomes in the GnomAD database, including 486 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 0.079 (486 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.54
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.0999 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: 0.0787 AC: 11977 AN: 152116 Hom.: 486 Cov.: 32

Gnomad AFR AF: 0.0578

Gnomad AMI AF: 0.175

Gnomad AMR AF: 0.0673

Gnomad ASJ AF: 0.0694

Gnomad EAS AF: 0.0688

Gnomad SAS AF: 0.106

Gnomad FIN AF: 0.0671

Gnomad MID AF: 0.142

Gnomad NFE AF: 0.0933

Gnomad OTH AF: 0.0889

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

GnomAD4 genome AF: 0.0788 AC: 11989 AN: 152234 Hom.: 486 Cov.: 32 AF XY: 0.0785 AC XY: 5843 AN XY: 74422

African (AFR) AF: 0.0578 AC: 2401 AN: 41530

American (AMR) AF: 0.0672 AC: 1027 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.0694 AC: 241 AN: 3472

East Asian (EAS) AF: 0.0686 AC: 355 AN: 5174

South Asian (SAS) AF: 0.107 AC: 519 AN: 4828

European-Finnish (FIN) AF: 0.0671 AC: 711 AN: 10596

Middle Eastern (MID) AF: 0.139 AC: 41 AN: 294

European-Non Finnish (NFE) AF: 0.0933 AC: 6348 AN: 68026

Other (OTH) AF: 0.0880 AC: 186 AN: 2114

Alfa AF: 0.0865 Hom.: 1246

Bravo AF: 0.0770

Asia WGS AF: 0.101 AC: 353 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	7.7
DANN	Benign	0.60
PhyloP100		1.5

Splicing

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

Other links and lift over

dbSNP: rs12186813; hg19: chr5-10802749;