17-34961694-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_052857.4(ZNF830):c.128C>T(p.Ala43Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000347 in 1,614,168 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_052857.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF830 | NM_052857.4 | c.128C>T | p.Ala43Val | missense_variant | Exon 1 of 1 | ENST00000361952.5 | NP_443089.3 | |
CCT6B | NM_006584.4 | c.-301G>A | upstream_gene_variant | ENST00000314144.10 | NP_006575.2 | |||
CCT6B | NM_001193529.3 | c.-301G>A | upstream_gene_variant | NP_001180458.1 | ||||
CCT6B | NM_001193530.2 | c.-301G>A | upstream_gene_variant | NP_001180459.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF830 | ENST00000361952.5 | c.128C>T | p.Ala43Val | missense_variant | Exon 1 of 1 | 6 | NM_052857.4 | ENSP00000354518.3 | ||
CCT6B | ENST00000585073.1 | c.-90-7095G>A | intron_variant | Intron 1 of 4 | 3 | ENSP00000462020.1 | ||||
CCT6B | ENST00000314144.10 | c.-301G>A | upstream_gene_variant | 1 | NM_006584.4 | ENSP00000327191.5 | ||||
CCT6B | ENST00000436961.7 | c.-301G>A | upstream_gene_variant | 2 | ENSP00000400917.3 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152158Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000437 AC: 11AN: 251490Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135920
GnomAD4 exome AF: 0.0000356 AC: 52AN: 1461892Hom.: 0 Cov.: 89 AF XY: 0.0000440 AC XY: 32AN XY: 727248
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152276Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74460
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.128C>T (p.A43V) alteration is located in exon 1 (coding exon 1) of the ZNF830 gene. This alteration results from a C to T substitution at nucleotide position 128, causing the alanine (A) at amino acid position 43 to be replaced by a valine (V). 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