19-21530643-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001001415.4(ZNF429):c.185C>G(p.Pro62Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000103 in 1,459,668 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 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. P62H) has been classified as Uncertain significance.
Frequency
Consequence
NM_001001415.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF429 | ENST00000358491.9 | c.185C>G | p.Pro62Arg | missense_variant | Exon 3 of 4 | 3 | NM_001001415.4 | ENSP00000351280.3 | ||
ZNF429 | ENST00000597078.5 | c.185C>G | p.Pro62Arg | missense_variant | Exon 3 of 6 | 1 | ENSP00000470300.1 | |||
ZNF429 | ENST00000594022.1 | n.570C>G | non_coding_transcript_exon_variant | Exon 5 of 6 | 3 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.0000400 AC: 10AN: 249790Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135528
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1459668Hom.: 0 Cov.: 30 AF XY: 0.0000124 AC XY: 9AN XY: 726254
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.185C>G (p.P62R) alteration is located in exon 3 (coding exon 3) of the ZNF429 gene. This alteration results from a C to G substitution at nucleotide position 185, causing the proline (P) at amino acid position 62 to be replaced by an arginine (R). 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