6-33483801-G-C

Variant names:

• chr6-33483801-G-C
• rs2772387

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 0.641 in 151,916 control chromosomes in the GnomAD database, including 31,728 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 0.64 (31728 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.27
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.735 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: 0.641 AC: 97259 AN: 151798 Hom.: 31685 Cov.: 31

Gnomad AFR AF: 0.742

Gnomad AMI AF: 0.730

Gnomad AMR AF: 0.620

Gnomad ASJ AF: 0.652

Gnomad EAS AF: 0.652

Gnomad SAS AF: 0.598

Gnomad FIN AF: 0.420

Gnomad MID AF: 0.687

Gnomad NFE AF: 0.618

Gnomad OTH AF: 0.661

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

GnomAD4 genome AF: 0.641 AC: 97363 AN: 151916 Hom.: 31728 Cov.: 31 AF XY: 0.632 AC XY: 46880 AN XY: 74218

African (AFR) AF: 0.742 AC: 30742 AN: 41454

American (AMR) AF: 0.620 AC: 9461 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.652 AC: 2260 AN: 3468

East Asian (EAS) AF: 0.652 AC: 3375 AN: 5174

South Asian (SAS) AF: 0.598 AC: 2880 AN: 4816

European-Finnish (FIN) AF: 0.420 AC: 4410 AN: 10508

Middle Eastern (MID) AF: 0.701 AC: 206 AN: 294

European-Non Finnish (NFE) AF: 0.618 AC: 41967 AN: 67924

Other (OTH) AF: 0.662 AC: 1398 AN: 2112

Alfa AF: 0.614 Hom.: 3411

Bravo AF: 0.660

Asia WGS AF: 0.679 AC: 2362 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.51
DANN	Benign	0.41
PhyloP100		-2.3

Splicing

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

Other links and lift over

dbSNP: rs2772387; hg19: chr6-33451578;