rs10565593

Variant names:

• chr6-85448708-TGTTAA-T
• rs10565593

Your query was ambiguous. Multiple possible variants found:

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

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 0 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	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

African (AFR) AF: 0.244 AC: 10096 AN: 41424

American (AMR) AF: 0.561 AC: 8546 AN: 15236

Ashkenazi Jewish (ASJ) AF: 0.514 AC: 1781 AN: 3462

East Asian (EAS) AF: 0.327 AC: 1686 AN: 5154

South Asian (SAS) AF: 0.479 AC: 2303 AN: 4810

European-Finnish (FIN) AF: 0.489 AC: 5124 AN: 10480

Middle Eastern (MID) AF: 0.531 AC: 155 AN: 292

European-Non Finnish (NFE) AF: 0.493 AC: 33388 AN: 67762

Other (OTH) AF: 0.454 AC: 958 AN: 2108

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

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.10

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs10565593; hg19: chr6-86158426;