rs758475553
Variant names:
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. The variant received 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. It is difficult to determine the true allele frequency of this variant because it is of type DEL_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. 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
NM_001330574.2 5_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.75
Publications
1 publications found
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]
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ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_001330574.2. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| ZNF711 | NM_001330574.2 | MANE Select | c.-464_-450delGGCGGCGGCGGCGGC | 5_prime_UTR | Exon 1 of 11 | NP_001317503.1 | Q9Y462-3 | ||
| ZNF711 | NM_001375431.1 | c.-85_-71delGGCGGCGGCGGCGGC | 5_prime_UTR | Exon 1 of 9 | NP_001362360.1 | Q9Y462-3 | |||
| ZNF711 | NM_001375432.1 | c.-459_-445delGGCGGCGGCGGCGGC | 5_prime_UTR | Exon 1 of 11 | NP_001362361.1 | Q9Y462-3 |
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| ZNF711 | ENST00000674551.1 | MANE Select | c.-464_-450delGGCGGCGGCGGCGGC | 5_prime_UTR | Exon 1 of 11 | ENSP00000502839.1 | Q9Y462-3 | ||
| ZNF711 | ENST00000276123.7 | TSL:1 | c.-459_-445delGGCGGCGGCGGCGGC | 5_prime_UTR | Exon 1 of 10 | ENSP00000276123.3 | Q9Y462-1 | ||
| ZNF711 | ENST00000373165.7 | TSL:1 | c.-205_-191delGGCGGCGGCGGCGGC | 5_prime_UTR | Exon 1 of 9 | ENSP00000362260.3 | Q9Y462-1 |
Frequencies
GnomAD3 genomes 0.00000923 AC: 1AN: 108389Hom.: 0 Cov.: 20 show subpopulations
GnomAD3 genomes
AF:
AC:
1
AN:
108389
Hom.:
Cov.:
20
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 38910Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 17060
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
38910
Hom.:
AF XY:
AC XY:
0
AN XY:
17060
African (AFR)
AF:
AC:
0
AN:
686
American (AMR)
AF:
AC:
0
AN:
917
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
660
East Asian (EAS)
AF:
AC:
0
AN:
2221
South Asian (SAS)
AF:
AC:
0
AN:
1837
European-Finnish (FIN)
AF:
AC:
0
AN:
2556
Middle Eastern (MID)
AF:
AC:
0
AN:
160
European-Non Finnish (NFE)
AF:
AC:
0
AN:
27707
Other (OTH)
AF:
AC:
0
AN:
2166
GnomAD4 genome 0.00000923 AC: 1AN: 108389Hom.: 0 Cov.: 20 AF XY: 0.00 AC XY: 0AN XY: 31475 show subpopulations
GnomAD4 genome
AF:
AC:
1
AN:
108389
Hom.:
Cov.:
20
AF XY:
AC XY:
0
AN XY:
31475
show subpopulations
African (AFR)
AF:
AC:
0
AN:
29354
American (AMR)
AF:
AC:
1
AN:
10395
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
2613
East Asian (EAS)
AF:
AC:
0
AN:
3399
South Asian (SAS)
AF:
AC:
0
AN:
2543
European-Finnish (FIN)
AF:
AC:
0
AN:
5660
Middle Eastern (MID)
AF:
AC:
0
AN:
233
European-Non Finnish (NFE)
AF:
AC:
0
AN:
52067
Other (OTH)
AF:
AC:
0
AN:
1452
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.425
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Variant carriers
0
2
4
6
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10
<30
30-35
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Age
Alfa
AF:
Hom.:
Bravo
AF:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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