rs2894342

Variant names:

• chr6-33806617-C-A
• rs2894342

Your query was ambiguous. Multiple possible variants found:

• chr6-33806617-C-A
• chr6-33806617-C-G
• chr6-33806617-C-T

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 0.224 in 152,206 control chromosomes in the GnomAD database, including 4,134 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 0.22 (4134 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0380
• Publications: 16 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.318 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: 0.224 AC: 34094 AN: 152088 Hom.: 4129 Cov.: 33

Gnomad AFR AF: 0.165

Gnomad AMI AF: 0.196

Gnomad AMR AF: 0.325

Gnomad ASJ AF: 0.245

Gnomad EAS AF: 0.164

Gnomad SAS AF: 0.214

Gnomad FIN AF: 0.310

Gnomad MID AF: 0.193

Gnomad NFE AF: 0.230

Gnomad OTH AF: 0.194

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

GnomAD4 genome AF: 0.224 AC: 34104 AN: 152206 Hom.: 4134 Cov.: 33 AF XY: 0.232 AC XY: 17273 AN XY: 74410

African (AFR) AF: 0.165 AC: 6842 AN: 41536

American (AMR) AF: 0.326 AC: 4982 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.245 AC: 849 AN: 3472

East Asian (EAS) AF: 0.163 AC: 846 AN: 5180

South Asian (SAS) AF: 0.214 AC: 1033 AN: 4822

European-Finnish (FIN) AF: 0.310 AC: 3288 AN: 10590

Middle Eastern (MID) AF: 0.184 AC: 54 AN: 294

European-Non Finnish (NFE) AF: 0.230 AC: 15629 AN: 67996

Other (OTH) AF: 0.191 AC: 403 AN: 2108

Alfa AF: 0.229 Hom.: 14388

Bravo AF: 0.222

Asia WGS AF: 0.185 AC: 644 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	3.3
DANN	Benign	0.58
PhyloP100		-0.038

Splicing

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

Other links and lift over

dbSNP: rs2894342; hg19: chr6-33774394;