rs1787781

Variant names:

• chr16-57307236-A-G
• rs1787781

Your query was ambiguous. Multiple possible variants found:

• chr16-57307236-A-G
• chr16-57307236-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 0.669 in 152,156 control chromosomes in the GnomAD database, including 38,987 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 0.67 (38987 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.186
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.834 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.670 AC: 101805 AN: 152038 Hom.: 38978 Cov.: 32

Gnomad AFR AF: 0.264

Gnomad AMI AF: 0.729

Gnomad AMR AF: 0.805

Gnomad ASJ AF: 0.811

Gnomad EAS AF: 0.765

Gnomad SAS AF: 0.725

Gnomad FIN AF: 0.828

Gnomad MID AF: 0.712

Gnomad NFE AF: 0.840

Gnomad OTH AF: 0.727

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

GnomAD4 genome AF: 0.669 AC: 101829 AN: 152156 Hom.: 38987 Cov.: 32 AF XY: 0.670 AC XY: 49873 AN XY: 74388

African (AFR) AF: 0.264 AC: 10966 AN: 41492

American (AMR) AF: 0.805 AC: 12306 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.811 AC: 2813 AN: 3470

East Asian (EAS) AF: 0.766 AC: 3960 AN: 5168

South Asian (SAS) AF: 0.725 AC: 3500 AN: 4830

European-Finnish (FIN) AF: 0.828 AC: 8776 AN: 10594

Middle Eastern (MID) AF: 0.721 AC: 212 AN: 294

European-Non Finnish (NFE) AF: 0.840 AC: 57100 AN: 68004

Other (OTH) AF: 0.726 AC: 1534 AN: 2112

Alfa AF: 0.749 Hom.: 79490

Bravo AF: 0.653

Asia WGS AF: 0.678 AC: 2354 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	0.71
DANN	Benign	0.65
PhyloP100		-0.19

Splicing

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

Other links and lift over

dbSNP: rs1787781; hg19: chr16-57341148;