rs7845815

Variant names:

• chr8-109165615-G-A
• rs7845815

Your query was ambiguous. Multiple possible variants found:

• chr8-109165615-G-A
• chr8-109165615-G-C

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 0.327 in 152,016 control chromosomes in the GnomAD database, including 8,653 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 0.33 (8653 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.156
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.73).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.455 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: 0.327 AC: 49621 AN: 151898 Hom.: 8647 Cov.: 32

Gnomad AFR AF: 0.222

Gnomad AMI AF: 0.556

Gnomad AMR AF: 0.431

Gnomad ASJ AF: 0.198

Gnomad EAS AF: 0.469

Gnomad SAS AF: 0.429

Gnomad FIN AF: 0.393

Gnomad MID AF: 0.193

Gnomad NFE AF: 0.343

Gnomad OTH AF: 0.309

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

GnomAD4 genome AF: 0.327 AC: 49648 AN: 152016 Hom.: 8653 Cov.: 32 AF XY: 0.332 AC XY: 24671 AN XY: 74278

African (AFR) AF: 0.222 AC: 9191 AN: 41484

American (AMR) AF: 0.432 AC: 6589 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.198 AC: 686 AN: 3468

East Asian (EAS) AF: 0.471 AC: 2429 AN: 5162

South Asian (SAS) AF: 0.429 AC: 2062 AN: 4808

European-Finnish (FIN) AF: 0.393 AC: 4143 AN: 10552

Middle Eastern (MID) AF: 0.201 AC: 59 AN: 294

European-Non Finnish (NFE) AF: 0.343 AC: 23320 AN: 67956

Other (OTH) AF: 0.313 AC: 662 AN: 2114

Alfa AF: 0.342 Hom.: 1631

Bravo AF: 0.325

Asia WGS AF: 0.472 AC: 1641 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.73
CADD	Benign	4.4
DANN	Benign	0.87
PhyloP100		-0.16

Splicing

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

Other links and lift over

dbSNP: rs7845815; hg19: chr8-110177844;