X-71324564-GTTTTTTTTT-GTTTTTTTTTTTT

Position:

• chrX-71324564-GTTTTTTTTT-GTTTTTTTTTTTT

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.0013 (5 hom., 4 hem., cov: 0)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.166

Genes affected

(HGNC:):

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BS2: High Homozygotes in GnomAd4 at 5 gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.71324564_71324565insTTT		intergenic_region

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.00126 AC: 97 AN: 76754 Hom.: 5 Cov.: 0 AF XY: 0.000275 AC XY: 4 AN XY: 14564

Gnomad AFR AF: 0.00257

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00135

Gnomad ASJ AF: 0.000469

Gnomad EAS AF: 0.000407

Gnomad SAS AF: 0.000641

Gnomad FIN AF: 0.00593

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000561

Gnomad OTH AF: 0.00110

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

GnomAD4 genome AF: 0.00126 AC: 97 AN: 76732 Hom.: 5 Cov.: 0 AF XY: 0.000275 AC XY: 4 AN XY: 14566

Gnomad4 AFR AF: 0.00257

Gnomad4 AMR AF: 0.00135

Gnomad4 ASJ AF: 0.000469

Gnomad4 EAS AF: 0.000409

Gnomad4 SAS AF: 0.000649

Gnomad4 FIN AF: 0.00593

Gnomad4 NFE AF: 0.000561

Gnomad4 OTH AF: 0.00109

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: rs34793613; hg19: chrX-70544414;