rs10843047

Variant names:

• chr12-27979579-A-G
• rs10843047

Your query was ambiguous. Multiple possible variants found:

• chr12-27979579-A-G
• chr12-27979579-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 0.258 in 151,220 control chromosomes in the GnomAD database, including 5,677 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 0.26 (5677 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.209
• Publications: 4 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 = 0.399 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: 0.257 AC: 38866 AN: 151104 Hom.: 5649 Cov.: 29

Gnomad AFR AF: 0.404

Gnomad AMI AF: 0.314

Gnomad AMR AF: 0.188

Gnomad ASJ AF: 0.172

Gnomad EAS AF: 0.224

Gnomad SAS AF: 0.188

Gnomad FIN AF: 0.149

Gnomad MID AF: 0.199

Gnomad NFE AF: 0.213

Gnomad OTH AF: 0.218

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

GnomAD4 genome AF: 0.258 AC: 38953 AN: 151220 Hom.: 5677 Cov.: 29 AF XY: 0.253 AC XY: 18670 AN XY: 73882

African (AFR) AF: 0.404 AC: 16645 AN: 41160

American (AMR) AF: 0.188 AC: 2865 AN: 15208

Ashkenazi Jewish (ASJ) AF: 0.172 AC: 597 AN: 3462

East Asian (EAS) AF: 0.224 AC: 1157 AN: 5158

South Asian (SAS) AF: 0.190 AC: 908 AN: 4772

European-Finnish (FIN) AF: 0.149 AC: 1556 AN: 10428

Middle Eastern (MID) AF: 0.201 AC: 59 AN: 294

European-Non Finnish (NFE) AF: 0.213 AC: 14427 AN: 67724

Other (OTH) AF: 0.215 AC: 453 AN: 2104

Alfa AF: 0.224 Hom.: 11577

Bravo AF: 0.268

Asia WGS AF: 0.189 AC: 658 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	4.9
DANN	Benign	0.51
PhyloP100		0.21

Splicing

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

Other links and lift over

dbSNP: rs10843047; hg19: chr12-28132512;