rs2307930

chr6-83766659-A-AATGG

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

The variant allele was found at a frequency of 0.187 in 152,106 control chromosomes in the GnomAD database, including 3,161 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.19 (3161 hom., cov: 28)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.512

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.451 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.187 AC: 28454 AN: 151988 Hom.: 3154 Cov.: 28

Gnomad AFR AF: 0.142

Gnomad AMI AF: 0.137

Gnomad AMR AF: 0.315

Gnomad ASJ AF: 0.218

Gnomad EAS AF: 0.467

Gnomad SAS AF: 0.226

Gnomad FIN AF: 0.139

Gnomad MID AF: 0.190

Gnomad NFE AF: 0.168

Gnomad OTH AF: 0.210

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

GnomAD4 genome AF: 0.187 AC: 28474 AN: 152106 Hom.: 3161 Cov.: 28 AF XY: 0.190 AC XY: 14135 AN XY: 74354

Gnomad4 AFR AF: 0.142

Gnomad4 AMR AF: 0.316

Gnomad4 ASJ AF: 0.218

Gnomad4 EAS AF: 0.467

Gnomad4 SAS AF: 0.227

Gnomad4 FIN AF: 0.139

Gnomad4 NFE AF: 0.168

Gnomad4 OTH AF: 0.209

Alfa AF: 0.168 Hom.: 249

Bravo AF: 0.199

Asia WGS AF: 0.300 AC: 1045 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2307930; hg19: chr6-84476378;