rs60131261

Positions:

• chr6-29969558-GTTTA-G
• chr6-29969558-GTTTA-GTTTATTTA

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 0.27 (5607 hom., cov: 20)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.237

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.297 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: 0.265 AC: 40200 AN: 151460 Hom.: 5607 Cov.: 20

Gnomad AFR AF: 0.208

Gnomad AMI AF: 0.288

Gnomad AMR AF: 0.256

Gnomad ASJ AF: 0.189

Gnomad EAS AF: 0.309

Gnomad SAS AF: 0.166

Gnomad FIN AF: 0.359

Gnomad MID AF: 0.215

Gnomad NFE AF: 0.296

Gnomad OTH AF: 0.242

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

GnomAD4 genome AF: 0.265 AC: 40197 AN: 151574 Hom.: 5607 Cov.: 20 AF XY: 0.264 AC XY: 19579 AN XY: 74024

Gnomad4 AFR AF: 0.208

Gnomad4 AMR AF: 0.256

Gnomad4 ASJ AF: 0.189

Gnomad4 EAS AF: 0.310

Gnomad4 SAS AF: 0.165

Gnomad4 FIN AF: 0.359

Gnomad4 NFE AF: 0.296

Gnomad4 OTH AF: 0.239

Alfa AF: 0.290 Hom.: 816

Bravo AF: 0.260

Asia WGS AF: 0.203 AC: 701 AN: 3452

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: rs60131261; hg19: chr6-29937335;