6-33363204-A-G

Variant names:

• chr6-33363204-A-G
• rs211452

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 0.35 in 152,108 control chromosomes in the GnomAD database, including 9,754 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 0.35 (9754 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0670
• Publications: 19 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.627 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: 0.350 AC: 53231 AN: 151990 Hom.: 9745 Cov.: 33

Gnomad AFR AF: 0.281

Gnomad AMI AF: 0.387

Gnomad AMR AF: 0.368

Gnomad ASJ AF: 0.422

Gnomad EAS AF: 0.644

Gnomad SAS AF: 0.523

Gnomad FIN AF: 0.265

Gnomad MID AF: 0.452

Gnomad NFE AF: 0.361

Gnomad OTH AF: 0.393

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

GnomAD4 genome AF: 0.350 AC: 53254 AN: 152108 Hom.: 9754 Cov.: 33 AF XY: 0.350 AC XY: 26061 AN XY: 74358

African (AFR) AF: 0.281 AC: 11659 AN: 41506

American (AMR) AF: 0.368 AC: 5615 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.422 AC: 1465 AN: 3468

East Asian (EAS) AF: 0.645 AC: 3328 AN: 5160

South Asian (SAS) AF: 0.524 AC: 2531 AN: 4830

European-Finnish (FIN) AF: 0.265 AC: 2797 AN: 10574

Middle Eastern (MID) AF: 0.466 AC: 135 AN: 290

European-Non Finnish (NFE) AF: 0.361 AC: 24533 AN: 67988

Other (OTH) AF: 0.397 AC: 839 AN: 2116

Alfa AF: 0.360 Hom.: 38948

Bravo AF: 0.350

Asia WGS AF: 0.581 AC: 2018 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	6.5
DANN	Benign	0.64
PhyloP100		0.067

Splicing

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

Other links and lift over

dbSNP: rs211452; hg19: chr6-33330981;