rs6733795

Variant names:

• chr2-85333360-G-A
• rs6733795

Your query was ambiguous. Multiple possible variants found:

• chr2-85333360-G-A
• chr2-85333360-G-C
• chr2-85333360-G-T

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 0.573 in 150,156 control chromosomes in the GnomAD database, including 25,208 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 0.57 (25208 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.252

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.865 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: 0.573 AC: 85964 AN: 150050 Hom.: 25187 Cov.: 33

Gnomad AFR AF: 0.451

Gnomad AMI AF: 0.565

Gnomad AMR AF: 0.703

Gnomad ASJ AF: 0.653

Gnomad EAS AF: 0.888

Gnomad SAS AF: 0.712

Gnomad FIN AF: 0.593

Gnomad MID AF: 0.731

Gnomad NFE AF: 0.571

Gnomad OTH AF: 0.625

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

GnomAD4 genome AF: 0.573 AC: 86011 AN: 150156 Hom.: 25208 Cov.: 33 AF XY: 0.583 AC XY: 42780 AN XY: 73432

Gnomad4 AFR AF: 0.450

Gnomad4 AMR AF: 0.704

Gnomad4 ASJ AF: 0.653

Gnomad4 EAS AF: 0.887

Gnomad4 SAS AF: 0.712

Gnomad4 FIN AF: 0.593

Gnomad4 NFE AF: 0.571

Gnomad4 OTH AF: 0.629

Alfa AF: 0.558 Hom.: 3039

Bravo AF: 0.568

Asia WGS AF: 0.788 AC: 2737 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.9
DANN	Benign	0.74

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6733795; hg19: chr2-85560483;