rs8057431

Positions:

• chr16-84806348-C-A
• chr16-84806348-C-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.776 in 151,960 control chromosomes in the GnomAD database, including 46,028 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 0.78 (46028 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.483

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.858 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.775 AC: 117738 AN: 151842 Hom.: 45964 Cov.: 30

Gnomad AFR AF: 0.865

Gnomad AMI AF: 0.725

Gnomad AMR AF: 0.840

Gnomad ASJ AF: 0.683

Gnomad EAS AF: 0.764

Gnomad SAS AF: 0.752

Gnomad FIN AF: 0.706

Gnomad MID AF: 0.731

Gnomad NFE AF: 0.725

Gnomad OTH AF: 0.780

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

GnomAD4 genome AF: 0.776 AC: 117860 AN: 151960 Hom.: 46028 Cov.: 30 AF XY: 0.775 AC XY: 57526 AN XY: 74254

Gnomad4 AFR AF: 0.866

Gnomad4 AMR AF: 0.840

Gnomad4 ASJ AF: 0.683

Gnomad4 EAS AF: 0.764

Gnomad4 SAS AF: 0.752

Gnomad4 FIN AF: 0.706

Gnomad4 NFE AF: 0.725

Gnomad4 OTH AF: 0.782

Alfa AF: 0.738 Hom.: 54059

Bravo AF: 0.790

Asia WGS AF: 0.771 AC: 2681 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.23
DANN	Benign	0.46

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8057431; hg19: chr16-84839954;