rs6930633

Variant names:

• chr6-151636956-A-G
• rs6930633

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 0.408 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
• Publications: 14 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

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

African (AFR) AF: 0.670 AC: 27751 AN: 41398

American (AMR) AF: 0.286 AC: 4366 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.322 AC: 1118 AN: 3468

East Asian (EAS) AF: 0.346 AC: 1789 AN: 5170

South Asian (SAS) AF: 0.352 AC: 1695 AN: 4812

European-Finnish (FIN) AF: 0.195 AC: 2053 AN: 10522

Middle Eastern (MID) AF: 0.401 AC: 117 AN: 292

European-Non Finnish (NFE) AF: 0.323 AC: 21966 AN: 67942

Other (OTH) AF: 0.406 AC: 857 AN: 2110

Alfa AF: 0.364 Hom.: 2511

Bravo AF: 0.426

Asia WGS AF: 0.377 AC: 1307 AN: 3464

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.41
DANN	Benign	0.78
PhyloP100		-0.69

Splicing

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

Other links and lift over

dbSNP: rs6930633; hg19: chr6-151958091;