8-5285143-T-C

Variant names:

• chr8-5285143-T-C
• rs7813806

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 0.391 in 151,998 control chromosomes in the GnomAD database, including 12,056 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 0.39 (12056 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.76

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.464 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: 0.391 AC: 59401 AN: 151880 Hom.: 12042 Cov.: 32

Gnomad AFR AF: 0.470

Gnomad AMI AF: 0.456

Gnomad AMR AF: 0.369

Gnomad ASJ AF: 0.272

Gnomad EAS AF: 0.0767

Gnomad SAS AF: 0.355

Gnomad FIN AF: 0.375

Gnomad MID AF: 0.199

Gnomad NFE AF: 0.384

Gnomad OTH AF: 0.360

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

GnomAD4 genome AF: 0.391 AC: 59460 AN: 151998 Hom.: 12056 Cov.: 32 AF XY: 0.386 AC XY: 28648 AN XY: 74294

Gnomad4 AFR AF: 0.470

Gnomad4 AMR AF: 0.370

Gnomad4 ASJ AF: 0.272

Gnomad4 EAS AF: 0.0767

Gnomad4 SAS AF: 0.355

Gnomad4 FIN AF: 0.375

Gnomad4 NFE AF: 0.384

Gnomad4 OTH AF: 0.358

Alfa AF: 0.370 Hom.: 16869

Bravo AF: 0.395

Asia WGS AF: 0.267 AC: 928 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	10
DANN	Benign	0.62

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7813806; hg19: chr8-5142665;