rs8037429

Variant names:

• chr15-53324712-C-T
• rs8037429

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 0.494 in 152,028 control chromosomes in the GnomAD database, including 18,760 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 0.49 (18760 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.40

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.527 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: 0.494 AC: 75045 AN: 151910 Hom.: 18728 Cov.: 33

Gnomad AFR AF: 0.423

Gnomad AMI AF: 0.696

Gnomad AMR AF: 0.484

Gnomad ASJ AF: 0.555

Gnomad EAS AF: 0.421

Gnomad SAS AF: 0.481

Gnomad FIN AF: 0.551

Gnomad MID AF: 0.472

Gnomad NFE AF: 0.531

Gnomad OTH AF: 0.495

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

GnomAD4 genome AF: 0.494 AC: 75125 AN: 152028 Hom.: 18760 Cov.: 33 AF XY: 0.494 AC XY: 36703 AN XY: 74308

Gnomad4 AFR AF: 0.423

Gnomad4 AMR AF: 0.485

Gnomad4 ASJ AF: 0.555

Gnomad4 EAS AF: 0.422

Gnomad4 SAS AF: 0.482

Gnomad4 FIN AF: 0.551

Gnomad4 NFE AF: 0.531

Gnomad4 OTH AF: 0.494

Alfa AF: 0.515 Hom.: 4549

Bravo AF: 0.488

Asia WGS AF: 0.469 AC: 1634 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.023
DANN	Benign	0.71

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8037429; hg19: chr15-53616909;