rs10565593

Positions:

• chr6-85448708-TGTTAA-T
• chr6-85448708-TGTTAA-TGTTAAGTTAA

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 0.43 (14842 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.102

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.551 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.426 AC: 64523 AN: 151516 Hom.: 14830 Cov.: 0

Gnomad AFR AF: 0.244

Gnomad AMI AF: 0.603

Gnomad AMR AF: 0.560

Gnomad ASJ AF: 0.514

Gnomad EAS AF: 0.327

Gnomad SAS AF: 0.479

Gnomad FIN AF: 0.489

Gnomad MID AF: 0.538

Gnomad NFE AF: 0.493

Gnomad OTH AF: 0.450

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

GnomAD4 genome AF: 0.426 AC: 64583 AN: 151634 Hom.: 14842 Cov.: 0 AF XY: 0.429 AC XY: 31776 AN XY: 74076

Gnomad4 AFR AF: 0.244

Gnomad4 AMR AF: 0.561

Gnomad4 ASJ AF: 0.514

Gnomad4 EAS AF: 0.327

Gnomad4 SAS AF: 0.479

Gnomad4 FIN AF: 0.489

Gnomad4 NFE AF: 0.493

Gnomad4 OTH AF: 0.454

Alfa AF: 0.459 Hom.: 2023

Bravo AF: 0.429

Asia WGS AF: 0.428 AC: 1488 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: rs10565593; hg19: chr6-86158426;