chrX-85255416-G-A
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_001330574.2(ZNF711):c.237G>A(p.Glu79Glu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000134 in 1,209,912 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 46 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001330574.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF711 | ENST00000674551.1 | c.237G>A | p.Glu79Glu | synonymous_variant | Exon 5 of 11 | NM_001330574.2 | ENSP00000502839.1 | |||
ZNF711 | ENST00000360700.4 | c.237G>A | p.Glu79Glu | synonymous_variant | Exon 4 of 10 | 1 | ENSP00000353922.4 | |||
ZNF711 | ENST00000276123.7 | c.237G>A | p.Glu79Glu | synonymous_variant | Exon 5 of 10 | 1 | ENSP00000276123.3 | |||
ZNF711 | ENST00000373165.7 | c.237G>A | p.Glu79Glu | synonymous_variant | Exon 4 of 9 | 1 | ENSP00000362260.3 |
Frequencies
GnomAD3 genomes AF: 0.0000627 AC: 7AN: 111628Hom.: 0 Cov.: 23 AF XY: 0.0000592 AC XY: 2AN XY: 33796
GnomAD3 exomes AF: 0.000104 AC: 19AN: 183510Hom.: 0 AF XY: 0.0000883 AC XY: 6AN XY: 67944
GnomAD4 exome AF: 0.000141 AC: 155AN: 1098229Hom.: 0 Cov.: 31 AF XY: 0.000121 AC XY: 44AN XY: 363587
GnomAD4 genome AF: 0.0000627 AC: 7AN: 111683Hom.: 0 Cov.: 23 AF XY: 0.0000591 AC XY: 2AN XY: 33861
ClinVar
Submissions by phenotype
not provided Benign:1
ZNF711: BP4, BP7, BS2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at