X-85255275-T-TA
Variant summary
Our verdict is Pathogenic. Variant got 14 ACMG points: 14P and 0B. PVS1_StrongPM2PP5_Very_Strong
The NM_001330574.2(ZNF711):c.97dupA(p.Thr33AsnfsTer15) variant causes a frameshift change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Likely pathogenic (★★).
Frequency
Consequence
NM_001330574.2 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 14 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF711 | ENST00000674551.1 | c.97dupA | p.Thr33AsnfsTer15 | frameshift_variant | Exon 5 of 11 | NM_001330574.2 | ENSP00000502839.1 | |||
ZNF711 | ENST00000360700.4 | c.97dupA | p.Thr33AsnfsTer15 | frameshift_variant | Exon 4 of 10 | 1 | ENSP00000353922.4 | |||
ZNF711 | ENST00000276123.7 | c.97dupA | p.Thr33AsnfsTer15 | frameshift_variant | Exon 5 of 10 | 1 | ENSP00000276123.3 | |||
ZNF711 | ENST00000373165.7 | c.97dupA | p.Thr33AsnfsTer15 | frameshift_variant | Exon 4 of 9 | 1 | ENSP00000362260.3 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
Intellectual disability, X-linked 97 Pathogenic:1
This 16 year old male with moderate intellectual disability, obsessive compulsive behaviors, and growth failure was found to carry a de novo variant in the ZNF711 gene. He is non-dysmorphic, in the 2nd percentile for weight, and in the 7th percentile for height. Pathogenic variants in this gene, including truncating variants, are associated with mild to moderate intellectual disability. Mild dysmorphic features and obesity have been reported in other individuals with pathogenic variants in this gene. The variant is absent from population databases and has not been reported previously in affected individuals, to our knowledge. This variant causes a frameshift and is predicted to cause loss of normal protein function. -
not provided Pathogenic:1
Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at