rs4786772

Variant names:

• chr16-1482836-A-G
• rs4786772

Your query was ambiguous. Multiple possible variants found:

• chr16-1482836-A-G
• chr16-1482836-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 0.331 in 151,976 control chromosomes in the GnomAD database, including 8,696 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 0.33 (8696 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0750
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.541 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: 0.331 AC: 50235 AN: 151858 Hom.: 8687 Cov.: 32

Gnomad AFR AF: 0.394

Gnomad AMI AF: 0.349

Gnomad AMR AF: 0.327

Gnomad ASJ AF: 0.328

Gnomad EAS AF: 0.557

Gnomad SAS AF: 0.348

Gnomad FIN AF: 0.328

Gnomad MID AF: 0.322

Gnomad NFE AF: 0.275

Gnomad OTH AF: 0.326

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

GnomAD4 genome AF: 0.331 AC: 50283 AN: 151976 Hom.: 8696 Cov.: 32 AF XY: 0.336 AC XY: 24922 AN XY: 74264

African (AFR) AF: 0.394 AC: 16341 AN: 41452

American (AMR) AF: 0.326 AC: 4978 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.328 AC: 1138 AN: 3468

East Asian (EAS) AF: 0.558 AC: 2875 AN: 5156

South Asian (SAS) AF: 0.349 AC: 1683 AN: 4818

European-Finnish (FIN) AF: 0.328 AC: 3464 AN: 10560

Middle Eastern (MID) AF: 0.339 AC: 99 AN: 292

European-Non Finnish (NFE) AF: 0.275 AC: 18705 AN: 67958

Other (OTH) AF: 0.324 AC: 682 AN: 2102

Alfa AF: 0.291 Hom.: 28488

Bravo AF: 0.333

Asia WGS AF: 0.461 AC: 1602 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	5.3
DANN	Benign	0.28
PhyloP100		-0.075

Splicing

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

Other links and lift over

dbSNP: rs4786772; hg19: chr16-1532837;