rs8044853

Variant names:

• chr16-81424054-C-T
• rs8044853

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 0.349 in 152,020 control chromosomes in the GnomAD database, including 9,506 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 0.35 (9506 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.19
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.447 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: 0.349 AC: 53036 AN: 151902 Hom.: 9477 Cov.: 31

Gnomad AFR AF: 0.389

Gnomad AMI AF: 0.227

Gnomad AMR AF: 0.379

Gnomad ASJ AF: 0.345

Gnomad EAS AF: 0.464

Gnomad SAS AF: 0.412

Gnomad FIN AF: 0.261

Gnomad MID AF: 0.373

Gnomad NFE AF: 0.320

Gnomad OTH AF: 0.368

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

GnomAD4 genome AF: 0.349 AC: 53119 AN: 152020 Hom.: 9506 Cov.: 31 AF XY: 0.348 AC XY: 25883 AN XY: 74308

African (AFR) AF: 0.390 AC: 16171 AN: 41444

American (AMR) AF: 0.379 AC: 5782 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.345 AC: 1196 AN: 3470

East Asian (EAS) AF: 0.463 AC: 2392 AN: 5170

South Asian (SAS) AF: 0.411 AC: 1983 AN: 4822

European-Finnish (FIN) AF: 0.261 AC: 2754 AN: 10562

Middle Eastern (MID) AF: 0.387 AC: 113 AN: 292

European-Non Finnish (NFE) AF: 0.320 AC: 21739 AN: 67968

Other (OTH) AF: 0.371 AC: 782 AN: 2106

Alfa AF: 0.336 Hom.: 27030

Bravo AF: 0.358

Asia WGS AF: 0.425 AC: 1475 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.48
DANN	Benign	0.68
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs8044853; hg19: chr16-81457659;