X-71324564-GTTTTTTTTT-GTTTTTTTTTTT

Variant names:

• chrX-71324564-G-GTT
• rs34793613

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 0.032 (132 hom., 326 hem., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.166
• Publications: 0 publications found

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0797 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: 0.0317 AC: 2434 AN: 76709 Hom.: 132 Cov.: 0

Gnomad AFR AF: 0.0829

Gnomad AMI AF: 0.00577

Gnomad AMR AF: 0.0145

Gnomad ASJ AF: 0.0131

Gnomad EAS AF: 0.00611

Gnomad SAS AF: 0.00833

Gnomad FIN AF: 0.0191

Gnomad MID AF: 0.0175

Gnomad NFE AF: 0.0128

Gnomad OTH AF: 0.0297

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

GnomAD4 genome AF: 0.0318 AC: 2436 AN: 76685 Hom.: 132 Cov.: 0 AF XY: 0.0224 AC XY: 326 AN XY: 14527

African (AFR) AF: 0.0830 AC: 1710 AN: 20609

American (AMR) AF: 0.0144 AC: 85 AN: 5922

Ashkenazi Jewish (ASJ) AF: 0.0131 AC: 28 AN: 2130

East Asian (EAS) AF: 0.00613 AC: 15 AN: 2447

South Asian (SAS) AF: 0.00843 AC: 13 AN: 1542

European-Finnish (FIN) AF: 0.0191 AC: 29 AN: 1520

Middle Eastern (MID) AF: 0.0200 AC: 2 AN: 100

European-Non Finnish (NFE) AF: 0.0128 AC: 524 AN: 40981

Other (OTH) AF: 0.0295 AC: 27 AN: 914

Alfa AF: 0.0102 Hom.: 1006

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.17

Splicing

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

Other links and lift over

dbSNP: rs34793613; hg19: chrX-70544414;