rs17147793
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_007137.5(ZNF81):c.350G>A(p.Gly117Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000915 in 1,093,251 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. 14/20 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. G117V) has been classified as Benign.
Frequency
Consequence
NM_007137.5 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 |
---|---|---|---|---|---|---|---|
ZNF81 | NM_007137.5 | c.350G>A | p.Gly117Asp | missense_variant | 5/5 | ENST00000338637.13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF81 | ENST00000338637.13 | c.350G>A | p.Gly117Asp | missense_variant | 5/5 | 3 | NM_007137.5 | P1 | |
ZNF81 | ENST00000376954.6 | c.350G>A | p.Gly117Asp | missense_variant | 6/6 | 5 | P1 | ||
ZNF81 | ENST00000376950.4 | c.277+19056G>A | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 23
GnomAD3 exomes AF: 0.0000114 AC: 2AN: 174889Hom.: 0 AF XY: 0.0000163 AC XY: 1AN XY: 61521
GnomAD4 exome AF: 9.15e-7 AC: 1AN: 1093251Hom.: 0 Cov.: 30 AF XY: 0.00000278 AC XY: 1AN XY: 359107
GnomAD4 genome ? Cov.: 23
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Jul 01, 2014 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at