rs1732887

Variant names:

• chr12-66187836-G-A
• rs1732887

Your query was ambiguous. Multiple possible variants found:

• chr12-66187836-G-A
• chr12-66187836-G-C

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 0.75 in 152,094 control chromosomes in the GnomAD database, including 43,528 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 0.75 (43528 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.386
• Publications: 8 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 (EAS) allele frequency at 95% confidence interval = 0.863 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: 0.750 AC: 114027 AN: 151976 Hom.: 43482 Cov.: 31

Gnomad AFR AF: 0.868

Gnomad AMI AF: 0.815

Gnomad AMR AF: 0.619

Gnomad ASJ AF: 0.775

Gnomad EAS AF: 0.884

Gnomad SAS AF: 0.759

Gnomad FIN AF: 0.670

Gnomad MID AF: 0.778

Gnomad NFE AF: 0.708

Gnomad OTH AF: 0.732

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

GnomAD4 genome AF: 0.750 AC: 114129 AN: 152094 Hom.: 43528 Cov.: 31 AF XY: 0.749 AC XY: 55702 AN XY: 74350

African (AFR) AF: 0.869 AC: 36036 AN: 41490

American (AMR) AF: 0.618 AC: 9449 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.775 AC: 2689 AN: 3470

East Asian (EAS) AF: 0.884 AC: 4576 AN: 5176

South Asian (SAS) AF: 0.759 AC: 3666 AN: 4828

European-Finnish (FIN) AF: 0.670 AC: 7081 AN: 10562

Middle Eastern (MID) AF: 0.786 AC: 231 AN: 294

European-Non Finnish (NFE) AF: 0.708 AC: 48112 AN: 67968

Other (OTH) AF: 0.731 AC: 1546 AN: 2116

Alfa AF: 0.759 Hom.: 12221

Bravo AF: 0.749

Asia WGS AF: 0.805 AC: 2800 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	3.4
DANN	Benign	0.49
PhyloP100		0.39

Splicing

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

Other links and lift over

dbSNP: rs1732887; hg19: chr12-66581616;