6-33805422-A-G

Variant names:

• chr6-33805422-A-G
• rs9366829

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 0.492 in 152,042 control chromosomes in the GnomAD database, including 18,775 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 (18775 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.319
• Publications: 11 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.76 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: 0.492 AC: 74745 AN: 151924 Hom.: 18763 Cov.: 31

Gnomad AFR AF: 0.486

Gnomad AMI AF: 0.556

Gnomad AMR AF: 0.459

Gnomad ASJ AF: 0.435

Gnomad EAS AF: 0.779

Gnomad SAS AF: 0.612

Gnomad FIN AF: 0.448

Gnomad MID AF: 0.557

Gnomad NFE AF: 0.481

Gnomad OTH AF: 0.521

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

GnomAD4 genome AF: 0.492 AC: 74805 AN: 152042 Hom.: 18775 Cov.: 31 AF XY: 0.491 AC XY: 36503 AN XY: 74332

African (AFR) AF: 0.486 AC: 20142 AN: 41448

American (AMR) AF: 0.458 AC: 6999 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.435 AC: 1506 AN: 3466

East Asian (EAS) AF: 0.780 AC: 4029 AN: 5166

South Asian (SAS) AF: 0.611 AC: 2944 AN: 4816

European-Finnish (FIN) AF: 0.448 AC: 4736 AN: 10574

Middle Eastern (MID) AF: 0.568 AC: 167 AN: 294

European-Non Finnish (NFE) AF: 0.481 AC: 32666 AN: 67978

Other (OTH) AF: 0.525 AC: 1109 AN: 2112

Alfa AF: 0.480 Hom.: 37786

Bravo AF: 0.495

Asia WGS AF: 0.662 AC: 2301 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.53
DANN	Benign	0.41
PhyloP100		-0.32

Splicing

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

Other links and lift over

dbSNP: rs9366829; hg19: chr6-33773199;