19-58477235-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000594369.6(ZNF446):c.17G>A(p.Gly6Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000412 in 1,576,776 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000594369.6 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF446 | NM_017908.4 | c.17G>A | p.Gly6Asp | missense_variant | 2/7 | ENST00000594369.6 | NP_060378.1 | |
ZNF446 | NM_001304453.1 | c.17G>A | p.Gly6Asp | missense_variant | 1/6 | NP_001291382.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF446 | ENST00000594369.6 | c.17G>A | p.Gly6Asp | missense_variant | 2/7 | 1 | NM_017908.4 | ENSP00000472802 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152014Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000219 AC: 5AN: 228216Hom.: 0 AF XY: 0.0000323 AC XY: 4AN XY: 123776
GnomAD4 exome AF: 0.0000442 AC: 63AN: 1424762Hom.: 0 Cov.: 31 AF XY: 0.0000497 AC XY: 35AN XY: 704744
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152014Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74248
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 04, 2023 | The c.17G>A (p.G6D) alteration is located in exon 2 (coding exon 1) of the ZNF446 gene. This alteration results from a G to A substitution at nucleotide position 17, causing the glycine (G) at amino acid position 6 to be replaced by an aspartic acid (D). 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