chrX-71324564-G-GT

Position:

• chrX-71324564-G-GT

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 0.56 (13201 hom., 5914 hem., cov: 0)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.166

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.766 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.71324564_71324565insT		intergenic_region

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.556 AC: 42684 AN: 76725 Hom.: 13212 Cov.: 0 AF XY: 0.408 AC XY: 5913 AN XY: 14491

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

Gnomad4 AFR AF: 0.198

Gnomad4 AMR AF: 0.387

Gnomad4 ASJ AF: 0.797

Gnomad4 EAS AF: 0.267

Gnomad4 SAS AF: 0.253

Gnomad4 FIN AF: 0.565

Gnomad4 NFE AF: 0.773

Gnomad4 OTH AF: 0.533

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;