6-94294843-G-A

Variant names:

• chr6-94294843-G-A
• rs434310

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 151,714 control chromosomes in the GnomAD database, including 3,974 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 (3974 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.118
• Publications: 5 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 = 0.285 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: 33890 AN: 151596 Hom.: 3971 Cov.: 31

Gnomad AFR AF: 0.151

Gnomad AMI AF: 0.164

Gnomad AMR AF: 0.203

Gnomad ASJ AF: 0.208

Gnomad EAS AF: 0.297

Gnomad SAS AF: 0.249

Gnomad FIN AF: 0.246

Gnomad MID AF: 0.194

Gnomad NFE AF: 0.264

Gnomad OTH AF: 0.220

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

GnomAD4 genome AF: 0.224 AC: 33916 AN: 151714 Hom.: 3974 Cov.: 31 AF XY: 0.224 AC XY: 16588 AN XY: 74110

African (AFR) AF: 0.151 AC: 6236 AN: 41370

American (AMR) AF: 0.203 AC: 3092 AN: 15206

Ashkenazi Jewish (ASJ) AF: 0.208 AC: 721 AN: 3462

East Asian (EAS) AF: 0.297 AC: 1520 AN: 5116

South Asian (SAS) AF: 0.249 AC: 1199 AN: 4818

European-Finnish (FIN) AF: 0.246 AC: 2595 AN: 10562

Middle Eastern (MID) AF: 0.185 AC: 54 AN: 292

European-Non Finnish (NFE) AF: 0.264 AC: 17885 AN: 67874

Other (OTH) AF: 0.221 AC: 464 AN: 2102

Alfa AF: 0.248 Hom.: 20839

Bravo AF: 0.214

Asia WGS AF: 0.229 AC: 796 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	0.51
DANN	Benign	0.68
PhyloP100		-0.12

Splicing

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

Other links and lift over

dbSNP: rs434310; hg19: chr6-95004561;