chrX-85255499-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001330574.2(ZNF711):c.320A>G(p.Asp107Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000207 in 1,210,075 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 9 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. D107E) has been classified as Uncertain significance.
Frequency
Consequence
NM_001330574.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF711 | NM_001330574.2 | c.320A>G | p.Asp107Gly | missense_variant | 5/11 | ENST00000674551.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF711 | ENST00000674551.1 | c.320A>G | p.Asp107Gly | missense_variant | 5/11 | NM_001330574.2 | P1 | ||
ZNF711 | ENST00000360700.4 | c.320A>G | p.Asp107Gly | missense_variant | 4/10 | 1 | P1 | ||
ZNF711 | ENST00000276123.7 | c.320A>G | p.Asp107Gly | missense_variant | 5/10 | 1 | |||
ZNF711 | ENST00000373165.7 | c.320A>G | p.Asp107Gly | missense_variant | 4/9 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000268 AC: 3AN: 111845Hom.: 0 Cov.: 23 AF XY: 0.0000294 AC XY: 1AN XY: 34009
GnomAD3 exomes AF: 0.0000109 AC: 2AN: 183478Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67916
GnomAD4 exome AF: 0.0000200 AC: 22AN: 1098230Hom.: 0 Cov.: 31 AF XY: 0.0000220 AC XY: 8AN XY: 363590
GnomAD4 genome ? AF: 0.0000268 AC: 3AN: 111845Hom.: 0 Cov.: 23 AF XY: 0.0000294 AC XY: 1AN XY: 34009
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Mar 25, 2015 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at