chrX-85255500-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001330574.2(ZNF711):c.321T>A(p.Asp107Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000331 in 1,210,045 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D107G) has been classified as Uncertain significance.
Frequency
Consequence
NM_001330574.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF711 | NM_001330574.2 | c.321T>A | p.Asp107Glu | missense_variant | 5/11 | ENST00000674551.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF711 | ENST00000674551.1 | c.321T>A | p.Asp107Glu | missense_variant | 5/11 | NM_001330574.2 | P1 | ||
ZNF711 | ENST00000360700.4 | c.321T>A | p.Asp107Glu | missense_variant | 4/10 | 1 | P1 | ||
ZNF711 | ENST00000276123.7 | c.321T>A | p.Asp107Glu | missense_variant | 5/10 | 1 | |||
ZNF711 | ENST00000373165.7 | c.321T>A | p.Asp107Glu | missense_variant | 4/9 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000894 AC: 1AN: 111806Hom.: 0 Cov.: 24 AF XY: 0.0000294 AC XY: 1AN XY: 33992
GnomAD4 exome AF: 0.00000273 AC: 3AN: 1098239Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 363599
GnomAD4 genome ? AF: 0.00000894 AC: 1AN: 111806Hom.: 0 Cov.: 24 AF XY: 0.0000294 AC XY: 1AN XY: 33992
ClinVar
Submissions by phenotype
Intellectual disability, X-linked 97 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | Oct 06, 2021 | ACMG classification criteria: PM2 moderate, BP4 supporting - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at