8-80486900-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001105539.3(ZBTB10):c.90C>A(p.Asn30Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000185 in 1,514,442 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_001105539.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZBTB10 | NM_001105539.3 | c.90C>A | p.Asn30Lys | missense_variant | Exon 1 of 6 | ENST00000455036.8 | NP_001099009.1 | |
ZBTB10 | NM_023929.5 | c.90C>A | p.Asn30Lys | missense_variant | Exon 1 of 7 | NP_076418.3 | ||
ZBTB10 | NM_001277145.2 | c.96+1021C>A | intron_variant | Intron 1 of 5 | NP_001264074.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151698Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000198 AC: 27AN: 1362744Hom.: 0 Cov.: 34 AF XY: 0.0000179 AC XY: 12AN XY: 671924
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151698Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74094
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.90C>A (p.N30K) alteration is located in exon 1 (coding exon 1) of the ZBTB10 gene. This alteration results from a C to A substitution at nucleotide position 90, causing the asparagine (N) at amino acid position 30 to be replaced by a lysine (K). 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