chr19-12015158-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001308348.2(ZNF433):c.1700C>G(p.Ala567Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A567T) has been classified as Uncertain significance.
Frequency
Consequence
NM_001308348.2 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 |
---|---|---|---|---|---|---|---|
ZNF433 | NM_001308348.2 | c.1700C>G | p.Ala567Gly | missense_variant | 4/4 | ENST00000550507.7 | |
ZNF433-AS1 | NR_134928.1 | n.256+13336G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF433 | ENST00000550507.7 | c.1700C>G | p.Ala567Gly | missense_variant | 4/4 | 2 | NM_001308348.2 | A2 | |
ZNF433-AS1 | ENST00000476474.5 | n.194+13336G>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 22, 2021 | The c.1709C>G (p.A570G) alteration is located in exon 4 (coding exon 4) of the ZNF433 gene. This alteration results from a C to G substitution at nucleotide position 1709, causing the alanine (A) at amino acid position 570 to be replaced by a glycine (G). 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.