rs8034726

Variant names:

• chr15-40593559-T-C
• rs8034726

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 0.123 in 152,100 control chromosomes in the GnomAD database, including 1,598 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 0.12 (1598 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.430
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.77).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.246 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: 0.122 AC: 18598 AN: 151982 Hom.: 1590 Cov.: 32

Gnomad AFR AF: 0.250

Gnomad AMI AF: 0.0592

Gnomad AMR AF: 0.0752

Gnomad ASJ AF: 0.0375

Gnomad EAS AF: 0.118

Gnomad SAS AF: 0.113

Gnomad FIN AF: 0.0770

Gnomad MID AF: 0.111

Gnomad NFE AF: 0.0692

Gnomad OTH AF: 0.105

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

GnomAD4 genome AF: 0.123 AC: 18638 AN: 152100 Hom.: 1598 Cov.: 32 AF XY: 0.121 AC XY: 8981 AN XY: 74354

African (AFR) AF: 0.250 AC: 10378 AN: 41470

American (AMR) AF: 0.0753 AC: 1151 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.0375 AC: 130 AN: 3470

East Asian (EAS) AF: 0.118 AC: 609 AN: 5176

South Asian (SAS) AF: 0.113 AC: 546 AN: 4818

European-Finnish (FIN) AF: 0.0770 AC: 815 AN: 10582

Middle Eastern (MID) AF: 0.0986 AC: 29 AN: 294

European-Non Finnish (NFE) AF: 0.0692 AC: 4704 AN: 67980

Other (OTH) AF: 0.105 AC: 222 AN: 2112

Alfa AF: 0.107 Hom.: 195

Bravo AF: 0.128

Asia WGS AF: 0.110 AC: 380 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.77
CADD	Benign	1.5
DANN	Benign	0.69
PhyloP100		-0.43
PromoterAI		0.055	Neutral

Splicing

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

Other links and lift over

dbSNP: rs8034726; hg19: chr15-40885757;