20-59192098-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_178457.3(ZNF831):c.1079G>A(p.Cys360Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000693 in 1,443,536 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_178457.3 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 |
---|---|---|---|---|---|---|---|
ZNF831 | NM_178457.3 | c.1079G>A | p.Cys360Tyr | missense_variant | 2/6 | ENST00000371030.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF831 | ENST00000371030.4 | c.1079G>A | p.Cys360Tyr | missense_variant | 2/6 | 1 | NM_178457.3 | P1 | |
ZNF831 | ENST00000637017.1 | c.1079G>A | p.Cys360Tyr | missense_variant | 4/8 | 5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 6.93e-7 AC: 1AN: 1443536Hom.: 0 Cov.: 33 AF XY: 0.00000139 AC XY: 1AN XY: 717748
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 31, 2024 | The c.1079G>A (p.C360Y) alteration is located in exon 1 (coding exon 1) of the ZNF831 gene. This alteration results from a G to A substitution at nucleotide position 1079, causing the cysteine (C) at amino acid position 360 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.