rs6930633

Positions:

• chr6-151636956-A-G

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 0.408 in 151,906 control chromosomes in the GnomAD database, including 14,824 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 0.41 (14824 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.688

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.664 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.408 AC: 61917 AN: 151788 Hom.: 14800 Cov.: 32

Gnomad AFR AF: 0.670

Gnomad AMI AF: 0.294

Gnomad AMR AF: 0.286

Gnomad ASJ AF: 0.322

Gnomad EAS AF: 0.346

Gnomad SAS AF: 0.353

Gnomad FIN AF: 0.195

Gnomad MID AF: 0.401

Gnomad NFE AF: 0.323

Gnomad OTH AF: 0.406

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

GnomAD4 genome AF: 0.408 AC: 61978 AN: 151906 Hom.: 14824 Cov.: 32 AF XY: 0.400 AC XY: 29693 AN XY: 74254

Gnomad4 AFR AF: 0.670

Gnomad4 AMR AF: 0.286

Gnomad4 ASJ AF: 0.322

Gnomad4 EAS AF: 0.346

Gnomad4 SAS AF: 0.352

Gnomad4 FIN AF: 0.195

Gnomad4 NFE AF: 0.323

Gnomad4 OTH AF: 0.406

Alfa AF: 0.338 Hom.: 1805

Bravo AF: 0.426

Asia WGS AF: 0.377 AC: 1307 AN: 3464

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.41
DANN	Benign	0.78

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6930633; hg19: chr6-151958091;