rs8030745

Variant names:

• chr15-73840750-T-C
• rs8030745

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 0.15 in 152,156 control chromosomes in the GnomAD database, including 1,923 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 0.15 (1923 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0450

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.299 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: 0.150 AC: 22861 AN: 152038 Hom.: 1927 Cov.: 32

Gnomad AFR AF: 0.196

Gnomad AMI AF: 0.148

Gnomad AMR AF: 0.123

Gnomad ASJ AF: 0.148

Gnomad EAS AF: 0.257

Gnomad SAS AF: 0.312

Gnomad FIN AF: 0.133

Gnomad MID AF: 0.136

Gnomad NFE AF: 0.112

Gnomad OTH AF: 0.164

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

GnomAD4 genome AF: 0.150 AC: 22853 AN: 152156 Hom.: 1923 Cov.: 32 AF XY: 0.153 AC XY: 11403 AN XY: 74402

Gnomad4 AFR AF: 0.196

Gnomad4 AMR AF: 0.122

Gnomad4 ASJ AF: 0.148

Gnomad4 EAS AF: 0.256

Gnomad4 SAS AF: 0.312

Gnomad4 FIN AF: 0.133

Gnomad4 NFE AF: 0.112

Gnomad4 OTH AF: 0.162

Alfa AF: 0.123 Hom.: 2633

Bravo AF: 0.150

Asia WGS AF: 0.290 AC: 1005 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.2
DANN	Benign	0.35

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8030745; hg19: chr15-74133091;