rs8193036

Variant names:

• chr6-52185695-C-T
• rs8193036

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 0.714 in 151,588 control chromosomes in the GnomAD database, including 39,418 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 0.71 (39418 hom., cov: 28)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.535

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.756 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: 0.714 AC: 108160 AN: 151466 Hom.: 39387 Cov.: 28

Gnomad AFR AF: 0.758

Gnomad AMI AF: 0.621

Gnomad AMR AF: 0.768

Gnomad ASJ AF: 0.772

Gnomad EAS AF: 0.298

Gnomad SAS AF: 0.560

Gnomad FIN AF: 0.589

Gnomad MID AF: 0.804

Gnomad NFE AF: 0.734

Gnomad OTH AF: 0.751

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

GnomAD4 genome AF: 0.714 AC: 108240 AN: 151588 Hom.: 39418 Cov.: 28 AF XY: 0.703 AC XY: 52059 AN XY: 74012

Gnomad4 AFR AF: 0.757

Gnomad4 AMR AF: 0.768

Gnomad4 ASJ AF: 0.772

Gnomad4 EAS AF: 0.298

Gnomad4 SAS AF: 0.560

Gnomad4 FIN AF: 0.589

Gnomad4 NFE AF: 0.734

Gnomad4 OTH AF: 0.753

Alfa AF: 0.741 Hom.: 61652

Bravo AF: 0.731

Asia WGS AF: 0.482 AC: 1679 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.1
DANN	Benign	0.36

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8193036; hg19: chr6-52050493;