8-133614712-G-A

Variant names:

• chr8-133614712-G-A
• rs2945770

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 0.139 in 152,040 control chromosomes in the GnomAD database, including 1,550 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 0.14 (1550 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.48
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.138 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: 0.139 AC: 21063 AN: 151922 Hom.: 1550 Cov.: 32

Gnomad AFR AF: 0.138

Gnomad AMI AF: 0.109

Gnomad AMR AF: 0.111

Gnomad ASJ AF: 0.207

Gnomad EAS AF: 0.0905

Gnomad SAS AF: 0.105

Gnomad FIN AF: 0.191

Gnomad MID AF: 0.193

Gnomad NFE AF: 0.140

Gnomad OTH AF: 0.143

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

GnomAD4 genome AF: 0.139 AC: 21073 AN: 152040 Hom.: 1550 Cov.: 32 AF XY: 0.139 AC XY: 10343 AN XY: 74328

African (AFR) AF: 0.138 AC: 5714 AN: 41442

American (AMR) AF: 0.110 AC: 1688 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.207 AC: 719 AN: 3468

East Asian (EAS) AF: 0.0902 AC: 467 AN: 5180

South Asian (SAS) AF: 0.105 AC: 504 AN: 4816

European-Finnish (FIN) AF: 0.191 AC: 2019 AN: 10560

Middle Eastern (MID) AF: 0.194 AC: 57 AN: 294

European-Non Finnish (NFE) AF: 0.140 AC: 9507 AN: 67976

Other (OTH) AF: 0.141 AC: 299 AN: 2116

Alfa AF: 0.136 Hom.: 2791

Bravo AF: 0.132

Asia WGS AF: 0.117 AC: 409 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.82
DANN	Benign	0.38
PhyloP100		-1.5

Splicing

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

Other links and lift over

dbSNP: rs2945770; hg19: chr8-134626955;