rs1433251

Variant names:

• chr12-72682251-A-G
• rs1433251

Your query was ambiguous. Multiple possible variants found:

• chr12-72682251-A-G
• chr12-72682251-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 0.47 in 151,294 control chromosomes in the GnomAD database, including 20,911 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 0.47 (20911 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.689
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.817 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.470 AC: 71009 AN: 151176 Hom.: 20860 Cov.: 31

Gnomad AFR AF: 0.824

Gnomad AMI AF: 0.209

Gnomad AMR AF: 0.418

Gnomad ASJ AF: 0.462

Gnomad EAS AF: 0.672

Gnomad SAS AF: 0.378

Gnomad FIN AF: 0.222

Gnomad MID AF: 0.519

Gnomad NFE AF: 0.299

Gnomad OTH AF: 0.449

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

GnomAD4 genome AF: 0.470 AC: 71114 AN: 151294 Hom.: 20911 Cov.: 31 AF XY: 0.464 AC XY: 34295 AN XY: 73896

African (AFR) AF: 0.825 AC: 34088 AN: 41338

American (AMR) AF: 0.418 AC: 6335 AN: 15164

Ashkenazi Jewish (ASJ) AF: 0.462 AC: 1598 AN: 3458

East Asian (EAS) AF: 0.672 AC: 3386 AN: 5040

South Asian (SAS) AF: 0.377 AC: 1814 AN: 4806

European-Finnish (FIN) AF: 0.222 AC: 2349 AN: 10580

Middle Eastern (MID) AF: 0.527 AC: 155 AN: 294

European-Non Finnish (NFE) AF: 0.299 AC: 20246 AN: 67608

Other (OTH) AF: 0.455 AC: 952 AN: 2094

Alfa AF: 0.359 Hom.: 18725

Bravo AF: 0.507

Asia WGS AF: 0.554 AC: 1928 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.60
DANN	Benign	0.80
PhyloP100		-0.69

Splicing

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

Other links and lift over

dbSNP: rs1433251; hg19: chr12-73076031; COSMIC: COSV70040898;