NM_001172690.2:c.1529A>G
Variant summary
Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001172690.2(ZNF573):c.1529A>G(p.His510Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000689 in 1,613,914 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001172690.2 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000375 AC: 57AN: 152160Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.000506 AC: 127AN: 251098 AF XY: 0.000567 show subpopulations
GnomAD4 exome AF: 0.000722 AC: 1055AN: 1461754Hom.: 0 Cov.: 38 AF XY: 0.000721 AC XY: 524AN XY: 727172 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.000375 AC: 57AN: 152160Hom.: 0 Cov.: 32 AF XY: 0.000283 AC XY: 21AN XY: 74330 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1529A>G (p.H510R) alteration is located in exon 5 (coding exon 4) of the ZNF573 gene. This alteration results from a A to G substitution at nucleotide position 1529, causing the histidine (H) at amino acid position 510 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