rs3862406

Variant names:

• chr12-33718488-G-A
• rs3862406

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 0.277 in 152,020 control chromosomes in the GnomAD database, including 7,127 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 0.28 (7127 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.484
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.361 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: 0.277 AC: 42028 AN: 151902 Hom.: 7126 Cov.: 32

Gnomad AFR AF: 0.0903

Gnomad AMI AF: 0.226

Gnomad AMR AF: 0.335

Gnomad ASJ AF: 0.330

Gnomad EAS AF: 0.0650

Gnomad SAS AF: 0.265

Gnomad FIN AF: 0.448

Gnomad MID AF: 0.386

Gnomad NFE AF: 0.365

Gnomad OTH AF: 0.284

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

GnomAD4 genome AF: 0.277 AC: 42035 AN: 152020 Hom.: 7127 Cov.: 32 AF XY: 0.278 AC XY: 20643 AN XY: 74274

African (AFR) AF: 0.0901 AC: 3740 AN: 41516

American (AMR) AF: 0.335 AC: 5117 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.330 AC: 1146 AN: 3468

East Asian (EAS) AF: 0.0648 AC: 334 AN: 5154

South Asian (SAS) AF: 0.267 AC: 1285 AN: 4816

European-Finnish (FIN) AF: 0.448 AC: 4720 AN: 10544

Middle Eastern (MID) AF: 0.395 AC: 116 AN: 294

European-Non Finnish (NFE) AF: 0.365 AC: 24779 AN: 67942

Other (OTH) AF: 0.281 AC: 592 AN: 2110

Alfa AF: 0.246 Hom.: 2316

Bravo AF: 0.266

Asia WGS AF: 0.147 AC: 512 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.86
DANN	Benign	0.60
PhyloP100		-0.48

Splicing

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

Other links and lift over

dbSNP: rs3862406; hg19: chr12-33871423;