rs8030745

Variant names:

• chr15-73840750-T-C
• rs8030745

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 0.15 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
• Publications: 4 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.196 AC: 8126 AN: 41494

American (AMR) AF: 0.122 AC: 1869 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.148 AC: 514 AN: 3470

East Asian (EAS) AF: 0.256 AC: 1326 AN: 5174

South Asian (SAS) AF: 0.312 AC: 1505 AN: 4822

European-Finnish (FIN) AF: 0.133 AC: 1408 AN: 10596

Middle Eastern (MID) AF: 0.133 AC: 39 AN: 294

European-Non Finnish (NFE) AF: 0.112 AC: 7591 AN: 67996

Other (OTH) AF: 0.162 AC: 341 AN: 2108

Alfa AF: 0.128 Hom.: 4296

Bravo AF: 0.150

Asia WGS AF: 0.290 AC: 1005 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.2
DANN	Benign	0.35
PhyloP100		-0.045

Splicing

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

Other links and lift over

dbSNP: rs8030745; hg19: chr15-74133091;