rs60131261

Variant names:

• chr6-29969558-GTTTA-G
• rs60131261

Your query was ambiguous. Multiple possible variants found:

• 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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;