rs758475553

Variant names:

• chrX-85244123-AGGCGGCGGCGGCGGC-A
• rs758475553
• NM_001330574.2:c.-464_-450delGGCGGCGGCGGCGGC

Your query was ambiguous. Multiple possible variants found:

• chrX-85244123-AGGCGGCGGCGGCGGC-A
• chrX-85244123-AGGCGGCGGCGGCGGC-AGGC
• chrX-85244123-AGGCGGCGGCGGCGGC-AGGCGGC
• chrX-85244123-AGGCGGCGGCGGCGGC-AGGCGGCGGC
• chrX-85244123-AGGCGGCGGCGGCGGC-AGGCGGCGGCGGC
• chrX-85244123-AGGCGGCGGCGGCGGC-AGGCGGCGGCGGCGGCGGC
• chrX-85244123-AGGCGGCGGCGGCGGC-AGGCGGCGGCGGCGGCGGCGGC
• chrX-85244123-AGGCGGCGGCGGCGGC-AGGCGGCGGCGGCGGCGGCGGCGGC
• chrX-85244123-AGGCGGCGGCGGCGGC-AGGCGGCGGCGGCGGCGGCGGCGGCGGC
• chrX-85244123-AGGCGGCGGCGGCGGC-AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC
• chrX-85244123-AGGCGGCGGCGGCGGC-AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC
• chrX-85244123-AGGCGGCGGCGGCGGC-AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC
• chrX-85244123-AGGCGGCGGCGGCGGC-AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_001330574.2(ZNF711):​c.-464_-450delGGCGGCGGCGGCGGC variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.0000092 (0 hom., 0 hem., cov: 20)
  • Exomes 𝑓: 0.0 (0 hom. 0 hem.)
  • Failed GnomAD Quality Control
• Consequence: ZNF711 NM_001330574.2 5_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.75

Genes affected

ZNF711 (HGNC:13128): (zinc finger protein 711) This gene encodes a zinc finger protein of unknown function. It bears similarity to a zinc finger protein which acts as a transcriptional activator. This gene lies in a region of the X chromosome which has been associated with cognitive disability. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ZNF711	NM_001330574.2	c.-464_-450delGGCGGCGGCGGCGGC		5_prime_UTR_variant	Exon 1 of 11	ENST00000674551.1	NP_001317503.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ZNF711	ENST00000674551	c.-464_-450delGGCGGCGGCGGCGGC		5_prime_UTR_variant	Exon 1 of 11		NM_001330574.2	ENSP00000502839.1
ZNF711	ENST00000276123	c.-459_-445delGGCGGCGGCGGCGGC		5_prime_UTR_variant	Exon 1 of 10	1		ENSP00000276123.3
ZNF711	ENST00000373165	c.-205_-191delGGCGGCGGCGGCGGC		5_prime_UTR_variant	Exon 1 of 9	1		ENSP00000362260.3

Frequencies

GnomAD3 genomes AF: 0.00000923 AC: 1 AN: 108389 Hom.: 0 Cov.: 20 AF XY: 0.00 AC XY: 0 AN XY: 31475

Gnomad AFR AF: 0.00

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0000962

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00

Gnomad OTH AF: 0.00

GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 38910 Hom.: 0 AF XY: 0.00 AC XY: 0 AN XY: 17060

Gnomad4 AFR exome AF: 0.00

Gnomad4 AMR exome AF: 0.00

Gnomad4 ASJ exome AF: 0.00

Gnomad4 EAS exome AF: 0.00

Gnomad4 SAS exome AF: 0.00

Gnomad4 FIN exome AF: 0.00

Gnomad4 NFE exome AF: 0.00

Gnomad4 OTH exome AF: 0.00

GnomAD4 genome AF: 0.00000923 AC: 1 AN: 108389 Hom.: 0 Cov.: 20 AF XY: 0.00 AC XY: 0 AN XY: 31475

Gnomad4 AFR AF: 0.00

Gnomad4 AMR AF: 0.0000962

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.00

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.00

Gnomad4 OTH AF: 0.00

Bravo AF: 0.00000378

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: rs758475553; hg19: chrX-84499129;