rs714552

Variant names:

• chr8-96171214-T-A
• rs714552

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 0.645 in 152,134 control chromosomes in the GnomAD database, including 33,063 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 0.65 (33063 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00900
• Publications: 3 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 (AFR) allele frequency at 95% confidence interval = 0.802 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: 0.645 AC: 98037 AN: 152014 Hom.: 33012 Cov.: 33

Gnomad AFR AF: 0.808

Gnomad AMI AF: 0.664

Gnomad AMR AF: 0.474

Gnomad ASJ AF: 0.692

Gnomad EAS AF: 0.279

Gnomad SAS AF: 0.613

Gnomad FIN AF: 0.569

Gnomad MID AF: 0.699

Gnomad NFE AF: 0.623

Gnomad OTH AF: 0.635

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

GnomAD4 genome AF: 0.645 AC: 98142 AN: 152134 Hom.: 33063 Cov.: 33 AF XY: 0.638 AC XY: 47461 AN XY: 74376

African (AFR) AF: 0.809 AC: 33596 AN: 41534

American (AMR) AF: 0.473 AC: 7235 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.692 AC: 2397 AN: 3466

East Asian (EAS) AF: 0.279 AC: 1440 AN: 5160

South Asian (SAS) AF: 0.613 AC: 2953 AN: 4820

European-Finnish (FIN) AF: 0.569 AC: 6012 AN: 10570

Middle Eastern (MID) AF: 0.707 AC: 208 AN: 294

European-Non Finnish (NFE) AF: 0.623 AC: 42355 AN: 67982

Other (OTH) AF: 0.635 AC: 1342 AN: 2114

Alfa AF: 0.640 Hom.: 3931

Bravo AF: 0.639

Asia WGS AF: 0.454 AC: 1582 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.2
DANN	Benign	0.54
PhyloP100		0.0090

Splicing

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

Other links and lift over

dbSNP: rs714552; hg19: chr8-97183442;