rs714046

Variant names:

• chr8-96619345-C-A
• rs714046

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 0.227 in 151,976 control chromosomes in the GnomAD database, including 4,071 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 0.23 (4071 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0320
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.327 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: 0.227 AC: 34471 AN: 151858 Hom.: 4064 Cov.: 31

Gnomad AFR AF: 0.269

Gnomad AMI AF: 0.213

Gnomad AMR AF: 0.171

Gnomad ASJ AF: 0.214

Gnomad EAS AF: 0.306

Gnomad SAS AF: 0.340

Gnomad FIN AF: 0.262

Gnomad MID AF: 0.253

Gnomad NFE AF: 0.195

Gnomad OTH AF: 0.221

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

GnomAD4 genome AF: 0.227 AC: 34494 AN: 151976 Hom.: 4071 Cov.: 31 AF XY: 0.231 AC XY: 17146 AN XY: 74262

African (AFR) AF: 0.269 AC: 11141 AN: 41410

American (AMR) AF: 0.171 AC: 2616 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.214 AC: 743 AN: 3472

East Asian (EAS) AF: 0.305 AC: 1572 AN: 5152

South Asian (SAS) AF: 0.341 AC: 1641 AN: 4810

European-Finnish (FIN) AF: 0.262 AC: 2773 AN: 10564

Middle Eastern (MID) AF: 0.262 AC: 77 AN: 294

European-Non Finnish (NFE) AF: 0.195 AC: 13265 AN: 67966

Other (OTH) AF: 0.223 AC: 472 AN: 2112

Alfa AF: 0.198 Hom.: 3901

Bravo AF: 0.217

Asia WGS AF: 0.333 AC: 1159 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	3.2
DANN	Benign	0.57
PhyloP100		0.032

Splicing

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

Other links and lift over

dbSNP: rs714046; hg19: chr8-97631573;