chr16-55845708-A-G

Variant names:

• chr16-55845708-A-G
• rs7184362

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 0.0711 in 151,624 control chromosomes in the GnomAD database, including 813 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 0.071 (813 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.367
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.187 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.0708 AC: 10733 AN: 151506 Hom.: 806 Cov.: 31

Gnomad AFR AF: 0.190

Gnomad AMI AF: 0.0571

Gnomad AMR AF: 0.0385

Gnomad ASJ AF: 0.0395

Gnomad EAS AF: 0.0703

Gnomad SAS AF: 0.0420

Gnomad FIN AF: 0.0158

Gnomad MID AF: 0.0601

Gnomad NFE AF: 0.0185

Gnomad OTH AF: 0.0557

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

GnomAD4 genome AF: 0.0711 AC: 10773 AN: 151624 Hom.: 813 Cov.: 31 AF XY: 0.0693 AC XY: 5134 AN XY: 74052

African (AFR) AF: 0.191 AC: 7877 AN: 41294

American (AMR) AF: 0.0384 AC: 585 AN: 15248

Ashkenazi Jewish (ASJ) AF: 0.0395 AC: 137 AN: 3466

East Asian (EAS) AF: 0.0703 AC: 361 AN: 5138

South Asian (SAS) AF: 0.0421 AC: 201 AN: 4780

European-Finnish (FIN) AF: 0.0158 AC: 165 AN: 10468

Middle Eastern (MID) AF: 0.0646 AC: 19 AN: 294

European-Non Finnish (NFE) AF: 0.0184 AC: 1253 AN: 67920

Other (OTH) AF: 0.0584 AC: 123 AN: 2106

Alfa AF: 0.0454 Hom.: 48

Bravo AF: 0.0771

Asia WGS AF: 0.0790 AC: 272 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	5.0
DANN	Benign	0.35
PhyloP100		-0.37

Splicing

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

Other links and lift over

dbSNP: rs7184362; hg19: chr16-55879620;