rs2945770

Variant names:

• chr8-133614712-G-A
• rs2945770

Your query was ambiguous. Multiple possible variants found:

• chr8-133614712-G-A
• chr8-133614712-G-T

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 0.139 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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.138

Gnomad4 AMR AF: 0.110

Gnomad4 ASJ AF: 0.207

Gnomad4 EAS AF: 0.0902

Gnomad4 SAS AF: 0.105

Gnomad4 FIN AF: 0.191

Gnomad4 NFE AF: 0.140

Gnomad4 OTH AF: 0.141

Alfa AF: 0.135 Hom.: 2069

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2945770; hg19: chr8-134626955;