rs2045155

Variant names:

• chr8-114759725-T-C
• rs2045155

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 0.107 in 152,238 control chromosomes in the GnomAD database, including 1,475 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 0.11 (1475 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.157
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.249 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: 0.107 AC: 16335 AN: 152120 Hom.: 1476 Cov.: 32

Gnomad AFR AF: 0.253

Gnomad AMI AF: 0.0406

Gnomad AMR AF: 0.0829

Gnomad ASJ AF: 0.0458

Gnomad EAS AF: 0.0922

Gnomad SAS AF: 0.0714

Gnomad FIN AF: 0.0454

Gnomad MID AF: 0.0601

Gnomad NFE AF: 0.0428

Gnomad OTH AF: 0.0817

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

GnomAD4 genome AF: 0.107 AC: 16346 AN: 152238 Hom.: 1475 Cov.: 32 AF XY: 0.108 AC XY: 8037 AN XY: 74430

African (AFR) AF: 0.253 AC: 10490 AN: 41520

American (AMR) AF: 0.0827 AC: 1264 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.0458 AC: 159 AN: 3470

East Asian (EAS) AF: 0.0916 AC: 474 AN: 5172

South Asian (SAS) AF: 0.0712 AC: 344 AN: 4830

European-Finnish (FIN) AF: 0.0454 AC: 482 AN: 10616

Middle Eastern (MID) AF: 0.0510 AC: 15 AN: 294

European-Non Finnish (NFE) AF: 0.0428 AC: 2910 AN: 68024

Other (OTH) AF: 0.0808 AC: 171 AN: 2116

Alfa AF: 0.0840 Hom.: 161

Bravo AF: 0.117

Asia WGS AF: 0.0860 AC: 298 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.63
DANN	Benign	0.48
PhyloP100		-0.16

Splicing

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

Other links and lift over

dbSNP: rs2045155; hg19: chr8-115771954;