rs3218110

Positions:

• chr6-41934770-CATT-C
• chr6-41934770-CATT-CATTATT

Variant summary

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

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.28 (6017 hom., cov: 19)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0300

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.351 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: 0.276 AC: 41810 AN: 151724 Hom.: 6016 Cov.: 19

Gnomad AFR AF: 0.356

Gnomad AMI AF: 0.237

Gnomad AMR AF: 0.215

Gnomad ASJ AF: 0.234

Gnomad EAS AF: 0.175

Gnomad SAS AF: 0.261

Gnomad FIN AF: 0.272

Gnomad MID AF: 0.320

Gnomad NFE AF: 0.251

Gnomad OTH AF: 0.294

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

GnomAD4 genome AF: 0.275 AC: 41825 AN: 151842 Hom.: 6017 Cov.: 19 AF XY: 0.276 AC XY: 20478 AN XY: 74192

Gnomad4 AFR AF: 0.356

Gnomad4 AMR AF: 0.214

Gnomad4 ASJ AF: 0.234

Gnomad4 EAS AF: 0.174

Gnomad4 SAS AF: 0.261

Gnomad4 FIN AF: 0.272

Gnomad4 NFE AF: 0.251

Gnomad4 OTH AF: 0.291

Alfa AF: 0.273 Hom.: 747

Bravo AF: 0.274

Asia WGS AF: 0.252 AC: 876 AN: 3478

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: rs3218110; hg19: chr6-41902508;