X-85271115-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001330574.2(ZNF711):c.1711A>G(p.Arg571Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000911 in 1,097,434 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001330574.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF711 | NM_001330574.2 | c.1711A>G | p.Arg571Gly | missense_variant | 11/11 | ENST00000674551.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF711 | ENST00000674551.1 | c.1711A>G | p.Arg571Gly | missense_variant | 11/11 | NM_001330574.2 | P1 | ||
ZNF711 | ENST00000360700.4 | c.1711A>G | p.Arg571Gly | missense_variant | 10/10 | 1 | P1 | ||
ZNF711 | ENST00000276123.7 | c.1573A>G | p.Arg525Gly | missense_variant | 10/10 | 1 | |||
ZNF711 | ENST00000373165.7 | c.1573A>G | p.Arg525Gly | missense_variant | 9/9 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 23
GnomAD4 exome AF: 9.11e-7 AC: 1AN: 1097434Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 363130
GnomAD4 genome ? Cov.: 23
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at