16-89722624-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001113525.2(ZNF276):c.299G>T(p.Gly100Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000112 in 1,611,876 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_001113525.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152260Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000561 AC: 14AN: 249446Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135368
GnomAD4 exome AF: 0.0000110 AC: 16AN: 1459616Hom.: 0 Cov.: 31 AF XY: 0.00000826 AC XY: 6AN XY: 726160
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152260Hom.: 0 Cov.: 34 AF XY: 0.0000134 AC XY: 1AN XY: 74390
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.299G>T (p.G100V) alteration is located in exon 2 (coding exon 2) of the ZNF276 gene. This alteration results from a G to T substitution at nucleotide position 299, causing the glycine (G) at amino acid position 100 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