12-133058535-C-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001289971.2(ZNF84):c.1820C>G(p.Ala607Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000522 in 1,613,982 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001289971.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000546 AC: 83AN: 152138Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.000520 AC: 760AN: 1461726Hom.: 3 Cov.: 36 AF XY: 0.000535 AC XY: 389AN XY: 727160
GnomAD4 genome AF: 0.000545 AC: 83AN: 152256Hom.: 0 Cov.: 33 AF XY: 0.000524 AC XY: 39AN XY: 74448
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1820C>G (p.A607G) alteration is located in exon 5 (coding exon 4) of the ZNF84 gene. This alteration results from a C to G substitution at nucleotide position 1820, causing the alanine (A) at amino acid position 607 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