rs4766834

Variant names:

• chr12-117202740-C-A
• rs4766834

Your query was ambiguous. Multiple possible variants found:

• chr12-117202740-C-A
• chr12-117202740-C-G

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 0.479 in 151,952 control chromosomes in the GnomAD database, including 17,826 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 0.48 (17826 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.118
• Publications: 7 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 (AMR) allele frequency at 95% confidence interval = 0.611 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: 0.479 AC: 72693 AN: 151834 Hom.: 17804 Cov.: 31

Gnomad AFR AF: 0.380

Gnomad AMI AF: 0.568

Gnomad AMR AF: 0.621

Gnomad ASJ AF: 0.476

Gnomad EAS AF: 0.615

Gnomad SAS AF: 0.525

Gnomad FIN AF: 0.478

Gnomad MID AF: 0.601

Gnomad NFE AF: 0.491

Gnomad OTH AF: 0.513

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

GnomAD4 genome AF: 0.479 AC: 72758 AN: 151952 Hom.: 17826 Cov.: 31 AF XY: 0.484 AC XY: 35919 AN XY: 74240

African (AFR) AF: 0.380 AC: 15753 AN: 41442

American (AMR) AF: 0.622 AC: 9503 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.476 AC: 1650 AN: 3468

East Asian (EAS) AF: 0.616 AC: 3177 AN: 5160

South Asian (SAS) AF: 0.522 AC: 2509 AN: 4804

European-Finnish (FIN) AF: 0.478 AC: 5043 AN: 10544

Middle Eastern (MID) AF: 0.599 AC: 176 AN: 294

European-Non Finnish (NFE) AF: 0.491 AC: 33337 AN: 67936

Other (OTH) AF: 0.518 AC: 1095 AN: 2112

Alfa AF: 0.487 Hom.: 16196

Bravo AF: 0.485

Asia WGS AF: 0.611 AC: 2124 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	1.2
DANN	Benign	0.72
PhyloP100		-0.12

Splicing

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

Other links and lift over

dbSNP: rs4766834; hg19: chr12-117640545;