16-8422951-A-G

Variant names:

• chr16-8422951-A-G
• rs7206043

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 0.518 in 151,814 control chromosomes in the GnomAD database, including 21,827 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 0.52 (21827 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.808
• Publications: 2 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 (EAS) allele frequency at 95% confidence interval = 0.894 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: 0.518 AC: 78580 AN: 151698 Hom.: 21787 Cov.: 33

Gnomad AFR AF: 0.649

Gnomad AMI AF: 0.308

Gnomad AMR AF: 0.571

Gnomad ASJ AF: 0.408

Gnomad EAS AF: 0.916

Gnomad SAS AF: 0.664

Gnomad FIN AF: 0.487

Gnomad MID AF: 0.430

Gnomad NFE AF: 0.400

Gnomad OTH AF: 0.496

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

GnomAD4 genome AF: 0.518 AC: 78678 AN: 151814 Hom.: 21827 Cov.: 33 AF XY: 0.528 AC XY: 39184 AN XY: 74180

African (AFR) AF: 0.649 AC: 26897 AN: 41432

American (AMR) AF: 0.572 AC: 8724 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.408 AC: 1415 AN: 3470

East Asian (EAS) AF: 0.916 AC: 4742 AN: 5176

South Asian (SAS) AF: 0.664 AC: 3199 AN: 4818

European-Finnish (FIN) AF: 0.487 AC: 5109 AN: 10488

Middle Eastern (MID) AF: 0.438 AC: 128 AN: 292

European-Non Finnish (NFE) AF: 0.400 AC: 27133 AN: 67866

Other (OTH) AF: 0.498 AC: 1050 AN: 2108

Alfa AF: 0.459 Hom.: 2176

Bravo AF: 0.526

Asia WGS AF: 0.787 AC: 2735 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.68
DANN	Benign	0.36
PhyloP100		-0.81

Splicing

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

Other links and lift over

dbSNP: rs7206043; hg19: chr16-8472953;