X-71324564-GTTTTTTTTT-GTTTTTTTTTT

Variant names:

• chrX-71324564-G-GT
• 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 0.56 (13201 hom., 5914 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 (NFE) allele frequency at 95% confidence interval = 0.766 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.556 AC: 42684 AN: 76725 Hom.: 13212 Cov.: 0

Gnomad AFR AF: 0.198

Gnomad AMI AF: 0.801

Gnomad AMR AF: 0.388

Gnomad ASJ AF: 0.797

Gnomad EAS AF: 0.267

Gnomad SAS AF: 0.258

Gnomad FIN AF: 0.565

Gnomad MID AF: 0.661

Gnomad NFE AF: 0.773

Gnomad OTH AF: 0.535

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

GnomAD4 genome AF: 0.556 AC: 42652 AN: 76702 Hom.: 13201 Cov.: 0 AF XY: 0.408 AC XY: 5914 AN XY: 14494

African (AFR) AF: 0.198 AC: 4077 AN: 20600

American (AMR) AF: 0.387 AC: 2293 AN: 5924

Ashkenazi Jewish (ASJ) AF: 0.797 AC: 1699 AN: 2133

East Asian (EAS) AF: 0.267 AC: 653 AN: 2446

South Asian (SAS) AF: 0.253 AC: 390 AN: 1542

European-Finnish (FIN) AF: 0.565 AC: 858 AN: 1519

Middle Eastern (MID) AF: 0.633 AC: 62 AN: 98

European-Non Finnish (NFE) AF: 0.773 AC: 31714 AN: 41003

Other (OTH) AF: 0.533 AC: 488 AN: 915

Alfa AF: 0.298 Hom.: 1006

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

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;