1-1585290-TTTTGTTTG-TTTTG

Position:

• chr1-1585290-TTTTGTTTG-TTTTG

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 0.35 (10191 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.212

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.432 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: 0.352 AC: 53269 AN: 151358 Hom.: 10187 Cov.: 0

Gnomad AFR AF: 0.205

Gnomad AMI AF: 0.526

Gnomad AMR AF: 0.293

Gnomad ASJ AF: 0.486

Gnomad EAS AF: 0.348

Gnomad SAS AF: 0.269

Gnomad FIN AF: 0.440

Gnomad MID AF: 0.484

Gnomad NFE AF: 0.436

Gnomad OTH AF: 0.391

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

GnomAD4 genome AF: 0.352 AC: 53280 AN: 151476 Hom.: 10191 Cov.: 0 AF XY: 0.350 AC XY: 25882 AN XY: 73984

Gnomad4 AFR AF: 0.205

Gnomad4 AMR AF: 0.293

Gnomad4 ASJ AF: 0.486

Gnomad4 EAS AF: 0.348

Gnomad4 SAS AF: 0.270

Gnomad4 FIN AF: 0.440

Gnomad4 NFE AF: 0.436

Gnomad4 OTH AF: 0.389

Bravo AF: 0.336

Asia WGS AF: 0.291 AC: 1013 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: rs34877486; hg19: chr1-1520670;