rs434310

Variant names:

• chr6-94294843-G-A
• rs434310

Your query was ambiguous. Multiple possible variants found:

• chr6-94294843-G-A
• chr6-94294843-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 0.224 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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.151

Gnomad4 AMR AF: 0.203

Gnomad4 ASJ AF: 0.208

Gnomad4 EAS AF: 0.297

Gnomad4 SAS AF: 0.249

Gnomad4 FIN AF: 0.246

Gnomad4 NFE AF: 0.264

Gnomad4 OTH AF: 0.221

Alfa AF: 0.250 Hom.: 10049

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs434310; hg19: chr6-95004561;